Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study

J INHERIT METAB DIS. 2024 [Epub ahead of print].

Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1
Barroso M, Puchwein-Schwepcke A, Buettner L, Goebel I, Küchler K, Muntau A, Delgado A, Garcia-Collazo A, Martinell M, Barril X, Cubero E, Gersting S
J MED CHEM. 2024;67(19):17087-17100.

Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria
Burton B, Clague G, Harding C, Kucuksayrac E, Levy D, Lindstrom K, Longo N, Maillot F, Muntau A, Rutsch F, Zori R
MOL GENET METAB. 2024;141(1):108114.

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries
Feillet F, Ficicioglu C, Lagler F, Longo N, Muntau A, Burlina A, Trefz F, van Spronsen F, Arnoux J, Lindstrom K, Lilienstein J, Clague G, Rowell R, Burton B
J INHERIT METAB DIS. 2024;47(4):636-650.

Functional studies drive treatment of phenylketonuria to become personalized
Gundorova P, Danecka M, Woidy M, Kasten V, Muntau A, Gersting S
EUR J HUM GENET. 2024;32(Suppl 1):698.

PaedVacCOVID - safety of the BNT162b2 vaccine against the SARS-CoV-2 in children with and without comorbidities aged 5 to 11 years
Holzwarth S, Saadat K, Jorczyk M, Dreßen S, Kotsias-Konopelska S, Schlegtendal A, Maier C, Schmitt J, Paul K, Pagel J, Muntau A, Berner R, Brinkmann F, Toepfner N
INFECTION. 2024.

Management of phenylketonuria in European PKU centres remains heterogeneous
Kirsten A, Amaya B, Alberto B, Maria G, Francois M, Ania M, Anne R, Anita M
MOL GENET METAB. 2024;141(1):108120.

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial
Muntau A, Longo N, Ezgu F, Schwartz I, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan H, Guimas A, Cabrales Guerra I, MacDonald A, Ingalls K, Smith N
LANCET. 2024;404(10460):1333-1345.

Meta-analysis of bone mineral density in adults with phenylketonuria
Rocha J, Hermida Á, Jones C, Wu Y, Clague G, Rose S, Whitehall K, Ahring K, Pessoa A, Harding C, Rohr F, Inwood A, Longo N, Muntau A, Sivri S, Maillot F
ORPHANET J RARE DIS. 2024;19(1):338.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel H, Schwartzmann S, Mensah M, Pantel J, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter A, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl A, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott C, Schülke M, Nguyen H, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz R, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec A, Karakostas P, Schäfer V, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin M, Incardona P, Lee-Kirsch M, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke A, Kaiser F, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold E, Schaaf C, Zawada M, Kaufmann L, Hinderhofer K, Okun P, Kotzaeridou U, Hoffmann G, Choukair D, Bettendorf M, Spielmann M, Ripke A, Pauly M, Münchau A, Lohmann K, Hüning I, Hanker B, Bäumer T, Herzog R, Hellenbroich Y, Westphal D, Strom T, Kovacs R, Riedhammer K, Mayerhanser K, Graf E, Brugger M, Hoefele J, Oexle K, Mirza-Schreiber N, Berutti R, Schatz U, Krenn M, Makowski C, Weigand H, Schröder S, Rohlfs M, Vill K, Hauck F, Borggraefe I, Müller-Felber W, Kurth I, Elbracht M, Knopp C, Begemann M, Kraft F, Lemke J, Hentschel J, Platzer K, Strehlow V, Abou Jamra R, Kehrer M, Demidov G, Beck-Wödl S, Graessner H, Sturm M, Zeltner L, Schöls L, Magg J, Bevot A, Kehrer C, Kaiser N, Turro E, Horn D, Grüters-Kieslich A, Klein C, Mundlos S, Nöthen M, Riess O, Meitinger T, Krude H, Krawitz P, Haack T, Ehmke N, Wagner M
NAT GENET. 2024;56(8):1644-1653.

Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Whitehall K, Rose S, Clague G, Ahring K, Bilder D, Harding C, Hermida Á, Inwood A, Longo N, Maillot F, Muntau A, Pessoa A, Rocha J, Rohr F, Sivri S, Said J, Oshinbolu S, Sibbring G
ORPHANET J RARE DIS. 2024;19(1):.

Fetal lung growth predicts the risk for early-life respiratory infections and childhood asthma
Zazara D, Giannou O, Schepanski S, Pagenkemper M, Giannou A, Pincus M, Belios I, Bonn S, Muntau A, Hecher K, Diemert A, Arck P
WORLD J PEDIATR. 2024;20(5):481-495.

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1
Barroso M, Gertzen M, Puchwein-Schwepcke A, Preisler H, Sturm A, Reiss D, Danecka M, Muntau A, Gersting S
INT J MOL SCI. 2023;24(17):.

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy
Braun F, Abed A, Sellung D, Rogg M, Woidy M, Eikrem O, Wanner N, Gambardella J, Laufer S, Haas F, Wong M, Dumoulin B, Rischke P, Mühlig A, Sachs W, von Cossel K, Schulz K, Muschol N, Gersting S, Muntau A, Kretz O, Hahn O, Rinschen M, Mauer M, Bork T, Grahammer F, Liang W, Eierhoff T, Römer W, Hansen A, Meyer-Schwesinger C, Iaccarino G, Tøndel C, Marti H, Najafian B, Puelles V, Schell C, Huber T
J CLIN INVEST. 2023;133(11):.

Long-Term Antibody Response to SARS-CoV-2 in Children
Dunay G, Barroso M, Woidy M, Danecka M, Engels G, Hermann K, Neumann F, Paul K, Beime J, Escherich G, Fehse K, Grinstein L, Haniel F, Haupt L, Hecher L, Kehl T, Kemen C, Kemper M, Kobbe R, Kohl A, Klokow T, Nörz D, Olfe J, Schlenker F, Schmiesing J, Schrum J, Sibbertsen F, Stock P, Tiede S, Vettorazzi E, Zazara D, Zapf A, Lütgehetmann M, Oh J, Mir T, Muntau A, Gersting S
J CLIN IMMUNOL. 2023;43(1):46-56.

Transition for adolescents with a rare disease: results of a nationwide German project
Grasemann C, Höppner J, Burgard P, Schündeln M, Matar N, Müller G, Krude H, Berner R, Lee-Kirsch M, Hauck F, Wainwright K, Baumgarten S, Atinga J, Bauer J, Manka E, Körholz J, Kiewert C, Heinen A, Kretschmer T, Kurth T, Mittnacht J, Schramm C, Klein C, Graessner H, Hiort O, Muntau A, Grüters A, Hoffmann G, Choukair D
ORPHANET J RARE DIS. 2023;18(1):93.

Comparing SARS-CoV-2 variants among children and adolescents in Germany: relative risk of COVID-19-related hospitalization, ICU admission and mortality
Jank M, Oechsle A, Armann J, Behrends U, Berner R, Chao C, Diffloth N, Doenhardt M, Hansen G, Hufnagel M, Lander F, Liese J, Muntau A, Niehues T, von Both U, Verjans E, Weil K, von Kries R, Schroten H
INFECTION. 2023;51(5):1357-1367.

Two years of pegvaliase in Germany: Experiences and best practice recommendations
Krämer J, Baerwald C, Heimbold C, Kamrath C, Parhofer K, Reichert A, Rutsch F, Stolz S, Weinhold N, Muntau A
MOL GENET METAB. 2023;139(1):107564.

Reduced Humoral and Cellular Immune Response to Primary COVID-19 mRNA Vaccination in Kidney Transplanted Children Aged 5–11 Years
Lalia J, Schild R, Lütgehetmann M, Dunay G, Kallinich T, Kobbe R, Massoud M, Oh J, Pietzsch L, Schulze-Sturm U, Schuetz C, Sibbertsen F, Speth F, Thieme S, Witkowski M, Berner R, Muntau A, Gersting S, Toepfner N, Pagel J, Paul K
VIRUSES-BASEL. 2023;15(7):1553.

Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion
Merkel M, Berg D, Brüggemann N, Classen J, Mainka T, Zittel S, Muntau A
J NEUROL. 2023;270(8):3675-3687.

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria
Rocha J, Ahring K, Bausell H, Bilder D, Harding C, Inwood A, Longo N, Muntau A, Pessoa A, Rohr F, Sivri S, Hermida Á
NUTRIENTS. 2023;15(18):.

Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Burton B, Hermida Á, Bélanger-Quintana A, Bell H, Bjoraker K, Christ S, Grant M, Harding C, Huijbregts S, Longo N, McNutt M, Nguyen-Driver M, Santos Pessoa A, Rocha J, Sacharow S, Sanchez-Valle A, Sivri H, Vockley J, Walterfang M, Whittle S, Muntau A
MOL GENET METAB. 2022;137(1-2):114-126.

Specific CD4+ T Cell Responses to Ancestral SARS-CoV-2 in Children Increase With Age and Show Cross-Reactivity to Beta Variant
Paul K, Sibbertsen F, Weiskopf D, Lütgehetmann M, Barroso M, Danecka M, Glau L, Hecher L, Hermann K, Kohl A, Oh J, Wiesch J, Sette A, Tolosa E, Vettorazzi E, Woidy M, Zapf A, Zazara D, Mir T, Muntau A, Gersting S, Dunay G
FRONT IMMUNOL. 2022;13:867577.

Cross-sectional seroprevalence surveys of SARS-CoV-2 antibodies in children in Germany, June 2020 to May 2021
Sorg A, Bergfeld L, Jank M, Corman V, Semmler I, Goertz A, Beyerlein A, Verjans E, Wagner N, Von Bernuth H, Lander F, Weil K, Hufnagel M, Spiekerkoetter U, Chao C, Naehrlich L, Muntau A, Schulze-Sturm U, Hansen G, Wetzke M, Jung A, Niehues T, Fricke-Otto S, Von Both U, Huebner J, Behrends U, Liese J, Schwerk C, Drosten C, Von Kries R, Schroten H
NAT COMMUN. 2022;13(1):.

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries
Evers R, van Wegberg A, Ahring K, Beblo S, Bélanger-Quintana A, Bosch A, Burlina A, Campistol J, Coskun T, Feillet F, Giżewska M, Huijbregts S, Kearney S, Langeveld M, Leuzzi V, Maillot F, Muntau A, Rocha J, Romani C, Trefz F, MacDonald A, van Spronsen F
MOL GENET METAB. 2021;132(4):215-219.

A noncoding RNA modulator potentiates phenylalanine metabolism in mice
Li Y, Tan Z, Zhang Y, Zhang Z, Hu Q, Liang K, Jun Y, Ye Y, Li Y, Li C, Liao L, Xu J, Xing Z, Pan Y, Chatterjee S, Nguyen T, Hsiao H, Egranov S, Putluri N, Coarfa C, Hawke D, Gunaratne P, Tsai K, Han L, Hung M, Calin G, Namour F, Guéant J, Muntau A, Blau N, Sutton V, Schiff M, Feillet F, Zhang S, Lin C, Yang L
SCIENCE. 2021;373(6555):662-673.

iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations
Lotz-Havla A, Woidy M, Guder P, Friedel C, Klingbeil J, Bulau A, Schultze A, Dahmen I, Noll-Puchta H, Kemp S, Erdmann R, Zimmer R, Muntau A, Gersting S
J PROTEOME RES. 2021;20(9):4366-4380.

Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency
Lotz-Havla A, Woidy M, Guder P, Schmiesing J, Erdmann R, Waterham H, Muntau A, Gersting S
FRONT GENET. 2021;12:.

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
Muntau A, Burlina A, Eyskens F, Freisinger P, Leuzzi V, Sivri H, Gramer G, Pazdírková R, Cleary M, Lotz-Havla A, Lane P, Alvarez I, Rutsch F
ORPHANET J RARE DIS. 2021;16(1):341.

Bacteriophage Rescue Therapy of a Vancomycin-Resistant Enterococcus faecium Infection in a One-Year-Old Child following a Third Liver Transplantation
Paul K, Merabishvili M, Hazan R, Christner M, Herden U, Gelman D, Khalifa L, Yerushalmy O, Coppenhagen-Glazer S, Harbauer T, Schulz-Jürgensen S, Rohde H, Fischer L, Aslam S, Rohde C, Nir-Paz R, Pirnay J, Singer D, Muntau A
VIRUSES-BASEL. 2021;13(9):1785.

Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers
Scheinin M, Junnila J, Reiner G, MacDonald A, Muntau A
NUTRIENTS. 2021;13(9):.

Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data
Trefz F, Muntau A, Schneider K, Altevers J, Jacob C, Braun S, Greiner W, Jha A, Jain M, Alvarez I, Lane P, Zeiss C, Rutsch F
MOL GENET METAB REP. 2021;27:100764.

The Genetic Landscape and Epidemiology of Phenylketonuria
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton B, Carducci C, Chiesa A, Christodoulou J, Đorđević M, Desviat L, Eliyahu A, Evers R, Fajkusova L, Feillet F, Bonfim-Freitas P, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev S, Leuzzi V, Levy H, Lichter-Konecki U, Muntau A, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov A, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva L, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz F, Vockley J, Yu Y, Zschocke J, Hoffmann G, Garbade S, Blau N
AM J HUM GENET. 2020;107(2):234-250.

Correction to: PKU dietary handbook to accompany PKU guidelines
MacDonald A, van Wegberg A, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts S, Leuzzi V, Maillot F, Muntau A, Rocha J, Romani C, Trefz F, van Spronsen F
ORPHANET J RARE DIS. 2020;15(1):230.

PKU dietary handbook to accompany PKU guidelines
MacDonald A, van Wegberg A, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts S, Leuzzi V, Maillot F, Muntau A, Rocha J, Romani C, Trefz F, van Spronsen F
ORPHANET J RARE DIS. 2020;15(1):171.

A prenatally disrupted airway epithelium orchestrates the fetal origin of asthma in mice
Zazara-Giannou D, Wegmann M, Giannou A, Hierweger A, Alawi M, Thiele K, Huber S, Pincus M, Muntau A, Solano M, Arck P
J ALLERGY CLIN IMMUN. 2020;145(6):1641-1654.

Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26
Guder P, Lotz-Havla A, Woidy M, Reiß D, Danecka M, Schatz U, Becker M, Ensenauer R, Pagel P, Büttner L, Muntau A, Gersting S
BBA-MOL CELL RES. 2019;1866(3):518-531.

Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
Mahler E, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack T, Strom T, Kortüm F, Meitinger T, Muntau A, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M
DTSCH ARZTEBL INT. 2019;116(12):197-204.

International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
Muntau A, Adams D, Bélanger-Quintana A, Bushueva T, Cerone R, Chien Y, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen F, Vargas P, Wilcox G, Bhattacharya K
MOL GENET METAB. 2019;127(1):1-11.

Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data
Trefz K, Muntau A, Kohlscheen K, Altevers J, Jacob C, Braun S, Greiner W, Jha A, Jain M, Alvarez I, Lane P, Schröder C, Rutsch F
ORPHANET J RARE DIS. 2019;14(1):181.

Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism
Eichinger A, Danecka M, Möglich T, Borsch J, Woidy M, Büttner L, Muntau A, Gersting S
HUM MOL GENET. 2018;27(10):1732-1742.

Pädiatrie hoch2
Muntau A
2018.

Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age
Muntau A, du Moulin M, Feillet F
ORPHANET J RARE DIS. 2018;13(1):173.

Inborn errors of metabolism and the human interactome: a systems medicine approach
Woidy M, Muntau A, Gersting S
J INHERIT METAB DIS. 2018;41(3):285-296.

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial
Muntau A, Burlina A, Eyskens F, Freisinger P, De Laet C, Leuzzi V, Rutsch F, Sivri H, Vijay S, Bal M, Gramer G, Pazdírková R, Cleary M, Lotz-Havla A, Munafo A, Mould D, Moreau-Stucker F, Rogoff D
ORPHANET J RARE DIS. 2017;12(1):47.

Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture
Schmiesing J, Lohmöller B, Schweizer M, Tidow H, Gersting S, Muntau A, Braulke T, Mühlhausen C
HUM MOL GENET. 2017;26(3):538-551.

Issues with European guidelines for phenylketonuria - Authors' reply
van Spronsen F, van Wegberg A, Ahring K, Bélanger-Quintana A, Blau N, Bosch A, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts S, Kearney S, Leuzzi V, Maillot F, Muntau A, Trefz F, van Rijn M, MacDonald A
LANCET DIABETES ENDO. 2017;5(9):683-684.

Key European guidelines for the diagnosis and management of patients with phenylketonuria
van Spronsen F, van Wegberg A, Ahring K, Bélanger-Quintana A, Blau N, Bosch A, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts S, Kearney S, Leuzzi V, Maillot F, Muntau A, Trefz F, van Rijn M, Walter J, MacDonald A
LANCET DIABETES ENDO. 2017.

The complete European guidelines on phenylketonuria: diagnosis and treatment
van Wegberg A, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch A, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts S, Kearney S, Leuzzi V, Maillot F, Muntau A, van Rijn M, Trefz F, Walter J, van Spronsen F
ORPHANET J RARE DIS. 2017;12(1):162.

Homooligomerization of ABCA3 and its functional significance
Frixel S, Lotz-Havla A, Kern S, Kaltenborn E, Wittmann T, Gersting S, Muntau A, Zarbock R, Griese M
INT J MOL MED. 2016;38(2):558-66.

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results: survey results
Giżewska M, MacDonald A, Bélanger-Quintana A, Burlina A, Cleary M, Coşkun T, Feillet F, Muntau A, Trefz F, van Spronsen F, Blau N
EUR J PEDIATR. 2016;175(2):261-72.

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
Santer R, du Moulin M, Shahinyan T, Vater I, Maier E, Muntau A, Steinmann B
ORPHANET J RARE DIS. 2016;11:44.

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Chien Y, Abdenur J, Baronio F, Bannick A, Corrales F, Couce M, Donner M, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu W, James P, Kim S, Korman S, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson W, Wortmann S, Yamamoto S, Pao M, Blom H
ORPHANET J RARE DIS. 2015;10:Art. 99.

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria
Danecka M, Woidy M, Zschocke J, Feillet F, Muntau A, Gersting S
J MED GENET. 2015;52(3):175-185.

The challenges of managing coexistent disorders with phenylketonuria: 30 cases
MacDonald A, Ahring K, Almeida M, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla A, Kamieńska E, Maillot F, Lammardo A, Muntau A, Puchwein-Schwepcke A, Robert M, Rocha J, Santra S, Skeath R, Strączek K, Trefz F, van Dam E, van Rijn M, van Spronsen F, Vijay S
MOL GENET METAB. 2015;116(4):242-51.

Kurzlehrbuch Pädiatrie
Muntau A
2015. Kurzlehrbuch Pädiatrie. 1. ed. München: Urban & Fischer, 1-479.

Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity
Reitzle L, Maier B, Stojanov S, Teupser D, Muntau A, Vogeser M, Gersting S
CLIN BIOCHEM. 2015;48(12):781-7.

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype
Reunert J, Lotz-Havla A, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau A, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina A, Mall M, Ciana G, Bembi B, Burlina A, Marquardt T
2015. JMID Reports. 1. ed. Springer, 17-26.

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling
Trefz F, Lichtenberger O, Blau N, Muntau A, Feillet F, Bélanger-Quintana A, van Spronsen F, Munafo A
MOL GENET METAB. 2015;114(4):564-9.

The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin
Trefz F, Muntau A, Lagler F, Moreau F, Alm J, Burlina A, Rutsch F, Bélanger-Quintana A, Feillet F
JIMD reports. 2015;23:35-43.

Management of adult patients with phenylketonuria: survey results from 24 countries
Trefz F, van Spronsen F, MacDonald A, Feillet F, Muntau A, Belanger-Quintana A, Burlina A, Demirkol M, Giovannini M, Gasteyger C
EUR J PEDIATR. 2015;174(1):119-127.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Wortmann S, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack T, Gersting S, Muntau A, Rakovic A, Renkema G, Rodenburg R, Strom T, Meitinger T, Rubio-Gozalbo M, Chrusciel E, Distelmaier F, Golzio C, Jansen J, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink J, Vaz F, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen M, de Brouwer A, Prokisch H, Katsanis N, Wevers R
AM J HUM GENET. 2015;96(2):245-57.

An interactive network of elastase, secretases, and PAR-2 protein regulates CXCR1 receptor surface expression on neutrophils
Bakele M, Lotz-Havla A, Jakowetz A, Carevic M, Marcos V, Muntau A, Gersting S, Hartl D
J BIOL CHEM. 2014;289(30):20516-25.

Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases
Feillet F, Muntau A, Debray F, Lotz-Havla A, Puchwein-Schwepcke A, Fofou-Caillierez M, van Spronsen F, Trefz F
J INHERIT METAB DIS. 2014;37(5):753-62.

The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase
Jank J, Maier E, Reiβ D, Haslbeck M, Kemter K, Truger M, Sommerhoff C, Ferdinandusse S, Wanders R, Gersting S, Muntau A
PLOS ONE. 2014;9(4):e93852.

Angeborene Störungen des Kohlenhydratstoffwechsels und sonstige angeborene Stoffwechselstörungen
Muntau A
2014. Therapie der Krankheiten im Kindes- und Jugendalter. Reinhardt D, Nicolai T, Zimmer K (eds.). 9. ed. Berlin Heidelberg: Springer, 117-132.

Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators
Muntau A, Leandro J, Staudigl M, Mayer F, Gersting S
J INHERIT METAB DIS. 2014;37(4):505-23.

Rad50-CARD9 interactions link cytosolic DNA sensing to IL-1β production
Roth S, Rottach A, Lotz-Havla A, Laux V, Muschaweckh A, Gersting S, Muntau A, Hopfner K, Jin L, Vanness K, Petrini J, Drexler I, Leonhardt H, Ruland J
NAT IMMUNOL. 2014;15(6):538-45.

Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes
Cleary M, Trefz F, Muntau A, Feillet F, van Spronsen F, Burlina A, Bélanger-Quintana A, Giżewska M, Gasteyger C, Bettiol E, Blau N, MacDonald A
MOL GENET METAB. 2013;110(4):418-23.

Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study
Keil S, Anjema K, van Spronsen F, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce M, Feillet F, Cerone R, Lotz-Havla A, Muntau A, Bosch A, Meli C, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N
PEDIATRICS. 2013;131(6):e1881-8.

What are effects of a spaced activation of virtual patients in a pediatric course?
Maier E, Hege I, Muntau A, Huber J, Fischer M
BMC MED EDUC. 2013;13:45.

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria
Nota B, Struys E, Pop A, Jansen E, Fernandez Ojeda M, Kanhai W, Kranendijk M, van Dooren S, Bevova M, Sistermans E, Nieuwint A, Barth M, Ben-Omran T, Hoffmann G, de Lonlay P, McDonald M, Meberg A, Muntau A, Nuoffer J, Parini R, Read M, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap M, Jakobs C, Salomons G
AM J HUM GENET. 2013;92(4):627-31.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
van de Kamp J, Betsalel O, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca M, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer H, Hofstede F, Johnson D, Kant S, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit J, Monteiro J, Munnich A, Muntau A, Nassogne M, Osaka H, Ounap K, Pinard J, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz C, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink M, Pouwels P, Errami A, van der Knaap M, Jakobs C, Mancini G, Salomons G
J MED GENET. 2013;50(7):463-72.

Bioluminescence resonance energy Transfer: an emerging tool for the detection of protein-protein interaction in living cells
Gersting S, Lotz-Havla A, Muntau A
Methods Mol Biol. 2012;815:253-63.

Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane
Hillebrand M, Gersting S, Lotz-Havla A, Schäfer A, Rosewich H, Valerius O, Muntau A, Gärtner J
J BIOL CHEM. 2012;287(1):210-21.

Novel pharmacological chaperones that correct phenylketonuria in mice
Santos-Sierra S, Kirchmair J, Perna A, Reiss D, Kemter K, Röschinger W, Glossmann H, Gersting S, Muntau A, Wolber G, Lagler F
HUM MOL GENET. 2012;21(8):1877-87.

Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria
Stéphenne X, Debray F, Smets F, Jazouli N, Sana G, Tondreau T, Menten R, Goffette P, Boemer F, Schoos R, Gersting S, Najimi M, Muntau A, Goyens P, Sokal E
CELL TRANSPLANT. 2012;21(12):2765-70.

Up to date knowledge on different treatment strategies for phenylketonuria
Bélanger-Quintana A, Burlina A, Harding C, Muntau A
MOL GENET METAB. 2011;104 Suppl:S19-25.

Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns
Ensenauer R, Fingerhut R, Maier E, Polanetz R, Olgemöller B, Röschinger W, Muntau A
CLIN CHEM. 2011;57(4):623-6.

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response
Staudigl M, Gersting S, Danecka M, Messing D, Woidy M, Pinkas D, Kemter K, Blau N, Muntau A
HUM MOL GENET. 2011;20(13):2628-41.

Varicella zoster virus ORF25 gene product: an essential hub protein linking encapsidation proteins and the nuclear egress complex
Vizoso Pinto M, Pothineni V, Haase R, Woidy M, Lotz-Havla A, Gersting S, Muntau A, Haas J, Sommer M, Arvin A, Baiker A
J PROTEOME RES. 2011;10(12):5374-82.

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo
Gersting S, Lagler F, Eichinger A, Kemter K, Danecka M, Messing D, Staudigl M, Domdey K, Zsifkovits C, Fingerhut R, Glossmann H, Roscher A, Muntau A
HUM MOL GENET. 2010;19(10):2039-49.

Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor
Gersting S, Staudigl M, Truger M, Messing D, Danecka M, Sommerhoff C, Kemter K, Muntau A
J BIOL CHEM. 2010;285(40):30686-97.

New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
Lagler F, Gersting S, Zsifkovits C, Steinbacher A, Eichinger A, Danecka M, Staudigl M, Fingerhut R, Glossmann H, Muntau A
BIOCHEM PHARMACOL. 2010;80(10):1563-71.

Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism
Muntau A, Gersting S
J INHERIT METAB DIS. 2010;33(6):649-58.

Uberbringen schlechter Nachrichten--Videogestützte Trainingseinheit für Medizinstudenten
Kopecky-Wenzel M, Maier E, Muntau A, Reinhardt D, Frank R
Z KINDER JUG-PSYCH. 2009;37(2):139-44.

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening
Maier E, Gersting S, Kemter K, Jank J, Reindl M, Messing D, Truger M, Sommerhoff C, Muntau A
HUM MOL GENET. 2009;18(9):1612-23.

LuMPIS--a modified luminescence-based mammalian interactome mapping pull-down assay for the investigation of protein-protein interactions encoded by GC-low ORFs
Vizoso Pinto M, Villegas J, Peter J, Haase R, Haas J, Lotz A, Muntau A, Baiker A
PROTEOMICS. 2009;9(23):5303-8.

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability
Gersting S, Kemter K, Staudigl M, Messing D, Danecka M, Lagler F, Sommerhoff C, Roscher A, Muntau A
AM J HUM GENET. 2008;83(1):5-17.

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype
Maier E, Mayerhofer P, Asheuer M, Köhler W, Rothe M, Muntau A, Roscher A, Holzinger A, Aubourg P, Berger J
BIOCHEM BIOPH RES CO. 2008;377(1):176-80.

Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria
Beblo S, Reinhardt H, Demmelmair H, Muntau A, Koletzko B
J PEDIATR-US. 2007;150(5):479-84.

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler S, Polanetz R, Maier E, Heidenreich S, Niederer B, Mayerhofer P, Lagler F, Koch H, Santer R, Fletcher J, Ranieri E, Das A, Spiekerkötter U, Schwab K, Pötzsch S, Marquardt I, Hennermann J, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau A, Roscher A, Röschinger W
HUM MUTAT. 2006;27(8):748-759.

Role of Pex19p in the targeting of PMP70 to peroxisome
Kashiwayama Y, Asahina K, Shibata H, Morita M, Muntau A, Roscher A, Wanders R, Shimozawa N, Sakaguchi M, Kato H, Imanaka T
Biochim Biophys Acta. 2005;1746(2):116-28.

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschütter A, Muntau A, Posselt H, Steinmann B, Schneppenheim R
HUM MUTAT. 2005;25(6):594.

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
Coenen M, van den Heuvel L, Ugalde C, Ten Brinke M, Nijtmans L, Trijbels F, Beblo S, Maier E, Muntau A, Smeitink J
ANN NEUROL. 2004;56(4):560-4.

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany
Hoffmann G, von Kries R, Klose D, Lindner M, Schulze A, Muntau A, Röschinger W, Liebl B, Mayatepek E, Roscher A
EUR J PEDIATR. 2004;163(2):76-80.

Interaction of PEX3 and PEX19 visualized by fluorescence resonance energy transfer (FRET)
Muntau A, Roscher A, Kunau W, Dodt G
ADV EXP MED BIOL. 2003;544:221-4.

The interaction between human PEX3 and PEX19 characterized by fluorescence resonance energy transfer (FRET) analysis
Muntau A, Roscher A, Kunau W, Dodt G
EUR J CELL BIOL. 2003;82(7):333-42.

Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts
Taanman J, Muddle J, Muntau A
HUM MOL GENET. 2003;12(15):1839-45.

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation
Maier E, Kammerer S, Muntau A, Wichers M, Braun A, Roscher A
ANN NEUROL. 2002;52(5):683-8.

Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly
Mayerhofer P, Kattenfeld T, Roscher A, Muntau A
BIOCHEM BIOPH RES CO. 2002;291(5):1180-6.

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
Muntau A, Röschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff C, Roscher A
NEW ENGL J MED. 2002;347(26):2122-32.

Age-related reference values for serum selenium concentrations in infants and children
Muntau A, Streiter M, Kappler M, Röschinger W, Schmid I, Rehnert A, Schramel P, Roscher A
CLIN CHEM. 2002;48(3):555-60.

PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease
Preuss N, Brosius U, Biermanns M, Muntau A, Conzelmann E, Gartner J
PEDIATR RES. 2002;51(6):706-14.

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA
Taanman J, Kateeb I, Muntau A, Jaksch M, Cohen N, Mandel H
ANN NEUROL. 2002;52(2):237-9.

Letzte Aktualisierung aus dem FIS: 24.12.2024 - 04:03 Uhr