about
Genetic basis of hyperlysinemiaHyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthaseMutations in ABCD4 cause a new inborn error of vitamin B12 metabolismCharacterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatmentInsights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patientsIsolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapyProposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaMolecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUTMutations in antiquitin in individuals with pyridoxine-dependent seizuresCharacterization of functional domains of the cblD (MMADHC) gene productFunctional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyPyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementationUnderstanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginineA single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiencyAn X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCDNephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumLack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.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.Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic reviewGene identification for the cblD defect of vitamin B12 metabolism.Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineationClinical 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.Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report.Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfectaNewborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.Successful intrauterine treatment of a patient with cobalamin C defect.Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.Exome Sequencing and the Management of Neurometabolic Disorders.Causes of and diagnostic approach to methylmalonic acidurias.Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.
P50
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P50
description
hulumtues
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researcher
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ricercatore
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հետազոտող
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name
Matthias R Baumgartner
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Matthias R Baumgartner
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Matthias R Baumgartner
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Matthias R Baumgartner
@nl
Matthias R Baumgartner
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type
label
Matthias R Baumgartner
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Matthias R Baumgartner
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Matthias R Baumgartner
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Matthias R Baumgartner
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Matthias R Baumgartner
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altLabel
Matthias Baumgartner
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Matthias R. Baumgartner
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prefLabel
Matthias R Baumgartner
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Matthias R Baumgartner
@en
Matthias R Baumgartner
@es
Matthias R Baumgartner
@nl
Matthias R Baumgartner
@sl
P1053
Q-2855-2017
P106
P21
P214
17145602496601362254
P31
P3829
P496
0000-0002-9270-0826
P734
P735
P7859
viaf-317073433