Ania Muntau
Univ.-Prof. Dr. med.
Ania C. Muntau
  • Director of the department
  • Medical Specialist in Pediatrics and Youth Medicine
Working area

Location

O45 , 1st Floor, Room number 01.5.014.1
Languages
German (Mother tongue)
English
Italian
French

Areas of expertise

Memberships

Publications

Zurück
  • 2019
  • 2018
  • 2017
  • 2016
  • 2015
  • 2014
  • 2013
  • 2012
  • 2011
  • 2010
  • 2009
  • 2008
  • 2007
Vor

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.

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 Berlin Heidelberg, 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 Verlag, 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.

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 JUGENDPSYCHIATR PSYCHOTHER. 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.

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.

Letzte Aktualisierung aus dem FIS: 19.11.2019 - 06:15 Uhr