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List of works by Matthias R Baumgartner

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Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

scientific article published on 22 February 2015
Dietary L-carnitine supplementation enhances the lipopolysaccharide-induced acute phase protein response in broiler chickens

scientific article published on 3 May 2007
Autism in patients with propionic acidemia.

scientific article published on 31 October 2016
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

scientific article
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

scientific article published on 4 January 2018
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.

scientific article published on 15 April 2015
Quo vadis: the re-definition of "inborn metabolic diseases"

scientific article published on 29 September 2015
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

scientific article
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review

scientific article
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

scientific article published on 27 August 2015
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency

scientific article
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.

scientific article published on 16 January 2013
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

scientific article
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency

scientific article published on 24 August 2009
Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up.

scientific article published on 27 August 2015
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

scientific article
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.

scientific article published on January 2013
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT

scientific journal article
Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis

scientific article published on 22 July 2008
Characterization of functional domains of the cblD (MMADHC) gene product

scientific journal article
Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant

scientific article published on 05 May 2011
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases

scientific article published on 01 January 2019
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria

scientific article published on 12 May 2017
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

scientific article published on 12 August 2016
Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

scientific article
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy

scientific article published on 11 June 2014
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family

scientific article
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

scientific article published on 20 December 2014
Subacute bilateral visual loss in methylmalonic acidemia

scientific article published on 01 December 2011
Newborn screening, a disease-changing intervention for glutaric aciduria type 1.

scientific article published on 17 April 2018
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

scientific article published on 25 January 2016
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine

scientific article published in October 2007
Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland.

scientific article
Vitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation

scientific article published on 28 January 2019
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency

scientific article published on 14 September 2007
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

scientific article
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency

scientific article
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 01 November 2015
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease

scientific article published on 01 November 1998
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker

scientific article published on 12 November 2007
Peroxisomal disorders

scientific article published on 01 February 2002
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

scientific article
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorder

scientific article published on 15 September 2017
Newborn screening for homocystinurias: recent recommendations versus current practice

scientific article published on 01 January 2019
Prognostic markers in lentigo maligna patients treated with imiquimod cream: A long-term follow-up study

scientific article published on October 23, 2015
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

scientific article published on 14 October 2016
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

scientific article published on 17 February 2019
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

scientific article (publication date: August 2015)
Successful intrauterine treatment of a patient with cobalamin C defect.

scientific article published on 4 February 2016
Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

scientific article published on 18 March 2016

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