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Lista de obras de Matthias R Baumgartner

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

artículo científico publicado en 2005

3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family

artículo científico publicado en 2009

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

artículo científico publicado en 2012

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency

artículo científico publicado en 2012

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

artículo científico publicado en 2018

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

artículo científico publicado en 2020

Autism in patients with propionic acidemia.

artículo científico publicado en 2016

B Vitamins: Small molecules, big effects

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

scientific article published on 22 July 2008

Causes of and diagnostic approach to methylmalonic acidurias.

artículo científico publicado en 2008

Cerebral edema and intracranial hypertension in an adult with maple syrup urine disease.

artículo científico publicado en 2009

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

artículo científico publicado en 2015

Characterization of functional domains of the cblD (MMADHC) gene product

scientific journal article

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

artículo científico publicado en 1998

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.

artículo científico publicado en 2014

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

artículo científico publicado en 2017

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.

artículo científico publicado en 2016

Complex lipids

artículo científico publicado en 2015

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease

artículo científico publicado en 1998

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

artículo científico publicado en 2009

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

artículo científico publicado en 2017

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

artículo científico publicado en 2008

Dietary L-carnitine supplementation enhances the lipopolysaccharide-induced acute phase protein response in broiler chickens

artículo científico publicado en 2007

Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control

scientific article published on 20 July 2018

Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria.

artículo científico publicado en 2017

Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker

scientific article published on 12 November 2007

Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome

scientific article published on 02 January 2020

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

artículo científico publicado en 2014

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

scientific article published on 01 November 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Exome Sequencing and the Management of Neurometabolic Disorders.

artículo científico publicado en 2016

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

artículo científico publicado en 2005

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

artículo científico publicado en 2016

Gene identification for the cblD defect of vitamin B12 metabolism

artículo científico publicado en 2008

Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease

scientific article published on 15 October 2019

Genetic basis of hyperlysinemia

artículo científico publicado en 2013

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency

artículo científico publicado en 2019

Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry

article

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

artículo científico publicado en 2016

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

artículo científico publicado en 2000

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

scientific article published on 13 May 2019

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

scientific article published on 20 February 2020

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria

artículo científico publicado en 2019

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

artículo científico publicado en 2015

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

artículo científico publicado en 2004

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke

scientific article published on 01 February 2006

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

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

artículo científico publicado en 2012

Laughing Gas in a Pediatric Emergency Department-Fun for All Participants: Vitamin B12 Status Among Medical Staff Working With Nitrous Oxide

artículo científico publicado en 2015

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.

artículo científico publicado en 2017

Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.

artículo científico publicado en 2016

Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult

artículo científico publicado en 2005

Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant

artículo científico publicado en 2011

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT

scientific journal article

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

artículo científico publicado en 2011

Mutation analysis in 54 propionic acidemia patients

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis

scientific article published on 23 October 2019

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

scientific journal article

Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency

artículo científico publicado en 2015

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

artículo científico publicado en 2015

New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria

artículo científico publicado en 2018

Newborn screening for cystic fibrosis in Switzerland--consequences after analysis of a 4 months pilot study

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Newborn screening for homocystinurias: recent recommendations versus current practice

artículo científico publicado en 2019

Newborn screening, a disease-changing intervention for glutaric aciduria type 1.

artículo científico publicado en 2018

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

scientific article published on 24 May 2019

Peroxisomal disorders

artículo científico publicado en 2002

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

artículo científico publicado en 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

artículo científico publicado en 2014

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

artículo científico publicado en 2005

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples

artículo científico publicado en 2010

Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Prognostic markers in lentigo maligna patients treated with imiquimod cream: A long-term follow-up study

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Propionic acidemia: neonatal versus selective metabolic screening

artículo científico publicado en 2011

Propionic acidemia: unusual course with late onset and fatal outcome

artículo científico publicado en 2004

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

artículo científico publicado en 2014

Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

Quo vadis: the re-definition of "inborn metabolic diseases"

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency

artículo científico publicado en 2007

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

scientific article published on 08 November 2019

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.

artículo científico publicado en 2012

Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up.

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2017

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.

artículo científico

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

artículo científico publicado en 2015

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.

artículo científico publicado en 2018

Subacute bilateral visual loss in methylmalonic acidemia

artículo científico publicado en 2011

Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report.

artículo científico publicado en 2015

Successful intrauterine treatment of a patient with cobalamin C defect.

artículo científico publicado en 2016

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

artículo científico publicado en 2004

The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways

scientific article published on 13 February 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases

artículo científico publicado en 2019

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

scientific article published on 28 April 2009

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria

scientific article published on 17 October 2019

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

artículo científico publicado en 2012

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

artículo científico publicado en 2015

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

scientific article published on 28 January 2019

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

[The basics of lysosomal storage diseases]

artículo científico publicado en 2018

[Vitamin B12 deficiency in children--underestimated danger in the light of new knowledge]

artículo científico publicado en 2011

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