FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Matthias Baumgartner

Research Profile

Chemicals & Drugs

Physiology

Disorders

Procedures

Living Beings

Co-author Network

Publications

TOP 3
Matthias R Baumgartner
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
David Coelho; Marcel du Moulin; Brian Fowler; Michele Frapolli; Stephen Fung; Wolfgang Höhne; Jaeseung C Kim; Nicola Longo; Jacek Majewski; Eugen Mengel; Isabelle R Miousse; Peter Nürnberg; Marzia Pasquali; Horst Robenek; David S Rosenblatt; Frank Rutsch; Eric A Shoubridge; Martin Stucki; Terttu Suormala; Holger Thiele; David Watkins; Insa Buers; Patricie Burda; Matthias R Baumgartner
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
M Zimmermann; Beat Thöny; T Torresani; Matthias R Baumgartner; Nenad Blau; R Fingerhut; P Jacobs; M Rohrbach
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Matthias Baumgartner (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Matthias R Baumgartner
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
Handbook of clinical neurology 2013;113():1799-810.
2012: David Coelho; Marcel du Moulin; Brian Fowler; Michele Frapolli; Stephen Fung; Wolfgang Höhne; Jaeseung C Kim; Nicola Longo; Jacek Majewski; Eugen Mengel; Isabelle R Miousse; Peter Nürnberg; Marzia Pasquali; Horst Robenek; David S Rosenblatt; Frank Rutsch; Eric A Shoubridge; Martin Stucki; Terttu Suormala; Holger Thiele; David Watkins; Insa Buers; Patricie Burda; Matthias R Baumgartner
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Nature genetics 2012;44(10):1152-5.
2012: M Zimmermann; Beat Thöny; T Torresani; Matthias R Baumgartner; Nenad Blau; R Fingerhut; P Jacobs; M Rohrbach
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.
Molecular genetics and metabolism 2012;106(3):264-8.
2012: Raphael J Morscher; Terttu Suormala; Patricie Burda; Céline Bürer; Brian Fowler; Sarah Catharina Grünert; Matthias R Baumgartner
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
Molecular genetics and metabolism 2012;105(4):602-6.
2012: Sarah C Grünert; Jürgen Herwig; Stefan Kölker; Raphael J Morscher; Dorothea Möslinger; Elisabetta Pasquini; René Santer; K Otfried Schwab; Martin Stucki; Terttu Suormala; Bridget Wilcken; Wyatt W Yue; Patricie Burda; Celine Bürer; Ernst Christensen; Can Ficicioglu; Brian Fowler; Matthias R Baumgartner
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Orphanet journal of rare diseases 2012;7():31.
2010: Marianne Rohrbach; Andrea Klein; Alice Köhli-Wiesner; Dorothe Veraguth; Ianina Scheer; Christian Balmer; Roger Lauener; Matthias R Baumgartner
CRIM-negative infantile Pompe disease: 42-month treatment outcome.
Journal of inherited metabolic disease 2010;33(6):751-7.
2010: Ralph Fingerhut; Gabriel De Jesus Silva Arevalo; Matthias R Baumgartner; Johannes Häberle; Marianne Rohrbach; Andrés Weinfeld Ávalos Figueroa; Elena María Dardón Fresse; Olga Leticia Polanco; Toni Torresani
Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples.
Journal of inherited metabolic disease 2010;33(Suppl 2):S235-9.
2009: Martin Stucki; Terttu Suormala; Brian Fowler; David Valle; Matthias R Baumgartner
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.
The Journal of biological chemistry 2009;284(42):28953-7.
2009: Friederike Hörster; Sven F Garbade; T Zwickler; H I Aydin; Olaf Bodamer; Alberto Burlina; A M Das; J B C De Klerk; Carlo Dionisi Vici; S Geb; G Gökcay; N Guffon; Esther M Maier; Eva Morava; J H Walter; B Schwahn; F A Wijburg; Martin Lindner; S Grünewald; Matthias R Baumgartner; Stefan Kölker
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
Journal of inherited metabolic disease 2009;32(5):630-9.
2007: P Paesold-Burda; Matthias R Baumgartner; R Santer; Nils U Bosshard; Beat Steinmann
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.
Journal of inherited metabolic disease 2007;30(6):896-902.
2007: Friederike Hörster; Matthias R Baumgartner; Caroline Viardot; Terttu Suormala; Peter Burgard; Brian Fowler; Georg F Hoffmann; Sven F Garbade; Stefan Kölker; E Regula Baumgartner
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
Pediatric research 2007;62(2):225-30.
2007: Thomas J Lempp; Terttu Suormala; Renate Siegenthaler; E Regula Baumgartner; Brian Fowler; Beat Steinmann; Matthias R Baumgartner
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
Molecular genetics and metabolism 2007;90(3):284-90.
2006: Dolores Friebel; Maja von der Hagen; E Regula Baumgartner; Brian Fowler; Gabriele Hahn; P Feyh; Georg Heubner; Matthias R Baumgartner; G F Hoffmann
The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin.
Neuropediatrics 2006;37(2):72-8.
2006: L Pinto; Paulo R G Zen; R Rosa; Giorgio Adriano Paskulin; A Perla; L Barea; Matthias R Baumgartner; Maria Fernanda Dantas; Brian Fowler; R Giugliani; C Vargas; M Wajner; Carla Graziadio
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
Journal of inherited metabolic disease 2006;29(1):205-6.
2005: Maria Fernanda Dantas; Terttu Suormala; Ann Randolph; David Coelho; Brian Fowler; David Valle; Matthias R Baumgartner
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
Human mutation 2005;26(2):164.
2005: Mary Maj; Neviana Mackay; Valeriy Levandovskiy; Jane Addis; E Regula Baumgartner; Matthias R Baumgartner; Brian H Robinson; Jessie M Cameron
Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
The Journal of clinical endocrinology and metabolism 2005;90(7):4101-7.
2005: Tolunay Baykal; Gulden Huner Gokcay; Zeynep Ince; Maria Fernanda Dantas; Brian Fowler; Matthias R Baumgartner; Fikri Demir; Gulay Can; Mübeccel Demirkol
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.
Journal of inherited metabolic disease 2005;28(2):229-33.
2005: Matthias R Baumgartner
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.
Journal of inherited metabolic disease 2005;28(3):301-9.
2004: Matthias R Baumgartner; Maria Fernanda Dantas; Terttu Suormala; Shlomo Almashanu; Cecilia Giunta; Dolores Friebel; Boris Gebhardt; Brian Fowler; Georg F Hoffmann; E Regula Baumgartner; David Valle
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
American journal of human genetics 2004;75(5):790-800.
2001: Matthias R Baumgartner; Shlomo Almashanu; Terttu Suormala; Cassandra Obie; Robert N Cole; S Packman; E Regula Baumgartner; David Valle
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
The Journal of clinical investigation 2001;107(4):495-504.
2000: Matthias R Baumgartner; HU CHIEN-AN; Shlomo Almashanu; Gary Steel; Cassandra Obie; Bernard Aral; Daniel Rabier; Pierre Kamoun; Jean-Marie Saudubray; David Valle
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
Human molecular genetics 2000;9(19):2853-8.