List of works - Matthias R Baumgartner

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

scientific journal article

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

scientific article

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

scientific article published on 14 June 2009

Exome Sequencing and the Management of Neurometabolic Disorders.

scientific article published on 25 May 2016

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

scientific article

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

scientific article

Gene identification for the cblD defect of vitamin B12 metabolism

scientific article

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

scientific article

Causes of and diagnostic approach to methylmalonic acidurias.

scientific article published on 19 June 2008

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

scientific article

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 15 April 2015

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

scientific article published on 23 December 2006

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

scientific article published on 28 April 2009

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

scientific article published on 15 April 2015

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

scientific article published on 2 August 2004

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

scientific article

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

scientific article

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

scientific article published on 29 April 2009

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study

scientific article

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

scientific article published on 18 March 2014

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

scientific article published on 6 March 2014

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

scientific article

CRIM-negative infantile Pompe disease: 42-month treatment outcome.

scientific article published on 30 September 2010

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

scientific article

Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation

scientific article (publication date: July 2005)

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

scientific article published on 3 December 2007

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency

scientific article published on 29 March 2010

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

scientific article

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

scientific article

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study

scientific article

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

scientific article published on 31 July 2009

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

scientific article published on 19 June 2013

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

scientific article published on 26 April 2013

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

scientific article

Propionic acidemia: neonatal versus selective metabolic screening

scientific article published on 02 December 2011

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

scientific article

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases

scientific article published on 25 March 2015

Genetic basis of hyperlysinemia

scientific article published in 2013

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

scientific article

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening

scientific article published on August 2005

Clinical approach to inherited peroxisomal disorders: a series of 27 patients

scientific article published on 01 November 1998

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

scientific article published in July 2004

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

scientific article

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

scientific article published on 8 December 2011

Propionic acidemia: unusual course with late onset and fatal outcome

scientific article

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

scientific article published on 27 May 2008

Mutation analysis in 54 propionic acidemia patients

scientific article

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency

scientific article (publication date: December 2014)

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

scientific article

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

scientific article published on 13 April 2011

List of works by Matthias R Baumgartner

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

Exome Sequencing and the Management of Neurometabolic Disorders.

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Gene identification for the cblD defect of vitamin B12 metabolism

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

Causes of and diagnostic approach to methylmalonic acidurias.

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

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

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

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

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

CRIM-negative infantile Pompe disease: 42-month treatment outcome.

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Propionic acidemia: neonatal versus selective metabolic screening

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases

Genetic basis of hyperlysinemia

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening

Clinical approach to inherited peroxisomal disorders: a series of 27 patients

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

Propionic acidemia: unusual course with late onset and fatal outcome

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

Mutation analysis in 54 propionic acidemia patients

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities