E. R. Baumgartner

发表

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

M. Baumgartner, S. Almashanu, T. Suormala, 2001, The Journal of clinical investigation.

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

E. R. Baumgartner, J. Fryns, R. Wevers, 2002, American journal of medical genetics.

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

L. D. Schroeder, E. R. Baumgartner, L. Bolund, 1999, American journal of human genetics.

Comparison of patients with complete and partial biotinidase deficiency: Biochemical studies

T. Suormala, E. R. Baumgartner, S. Schweitzer, 1990, Journal of Inherited Metabolic Disease.

3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father

T. Suormala, E. R. Baumgartner, D. Reijngoud, 2000, European Journal of Pediatrics.

Relationship between Kinetic Properties of Mutant Enzyme and Biochemical and Clinical Responsiveness to Biotin in Holocarboxylase Synthetase Deficiency

T. Suormala, E. R. Baumgartner, M. Hiratsuka, 1999, Pediatric Research.

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency

T. Suormala, E. R. Baumgartner, Xia Li, 1999, Human Genetics.

Delayed-onset profound biotinidase deficiency.

T. Suormala, E. R. Baumgartner, V. Ramaekers, 1998, The Journal of pediatrics.

Coenzyme Q10 is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

E. R. Baumgartner, R. Rodenburg, J. Okun, 2009, Journal of Inherited Metabolic Disease.

Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia

E. R. Baumgartner, D. Danks, K. Okamura-Ikeda, 1994, Human Genetics.

Propionic acidaemia: clinical, biochemical and therapeutic aspects

T. Suormala, E. R. Baumgartner, W. Sperl, 2005, European Journal of Pediatrics.

Transcobalamin II deficiency with methylmalonic aciduria in three sisters

E. R. Baumgartner, H. Bibi, D. Rosenblatt, 1999, Journal of Inherited Metabolic Disease.

Leukodystrophy and CSF Purine Abnormalities Associated with Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency

T. Suormala, E. R. Baumgartner, A. Latini, 2002, Metabolic Brain Disease.

Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency

T. Suormala, E. R. Baumgartner, H. Wick, 1985, European Journal of Pediatrics.

Biotin-Responsive Multiple Carboxylase Deficiency

T. Suormala, E. R. Baumgartner, E. Baumgartner, 1995 .

Biotinidase Deficiency Associated with Renal Loss of Biocytin and Biotin

T. Suormala, E. R. Baumgartner, H. Wick, 1985, Annals of the New York Academy of Sciences.

Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset.

E. R. Baumgartner, L. Kappos, U. Bogdahn, 1996, Journal of Neurology Neurosurgery & Psychiatry.

Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC).

T. Suormala, E. R. Baumgartner, J. Bausch, 1988, Clinica chimica acta; international journal of clinical chemistry.

Seventeen novel mutations that cause profound biotinidase deficiency.

T. Suormala, E. R. Baumgartner, C. Pérez-Cerdá, 2002, Molecular genetics and metabolism.

Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells

T. Suormala, E. R. Baumgartner, B. Baur, 2002, Brain Research.

The gene coding for the α-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32

T. Suormala, E. R. Baumgartner, I. Kennerknecht, 1990, Human Genetics.

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

M. Baumgartner, E. R. Baumgartner, B. Robinson, 2005, The Journal of clinical endocrinology and metabolism.

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

T. Suormala, E. R. Baumgartner, M. Durán, 1998, European Journal of Pediatrics.

Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.

T. Suormala, E. R. Baumgartner, 1997, International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition.

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

T. Suormala, E. R. Baumgartner, B. Plecko, 2001, European Journal of Pediatrics.

Biotinidase Deficiency: A Cause of Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome). Report of a Case with Lethal Outcome

T. Suormala, E. R. Baumgartner, A. Probst, 1989, Pediatric Research.

Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results

E. R. Baumgartner, H. Wick, T. Sourmala, 1988, European Journal of Pediatrics.

A biotinidase Km variant causing late onset bilateral optic neuropathy.

T. Suormala, E. R. Baumgartner, V. Ramaekers, 1992, Archives of disease in childhood.

Biotinidase deficiency: Factors responsible for the increased biotin requirement

T. Suormala, E. R. Baumgartner, J. Bausch, 1985, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, S. Almashanu, T. Suormala, 2004, American journal of human genetics.

Na(+)-dependent biotin transport into brush-border membrane vesicles from rat kidney.

E. R. Baumgartner, H. Wick, B. Baur, 1990, The American journal of physiology.

Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy

T. Suormala, E. R. Baumgartner, J. Loiselet, 1999, Journal of Inherited Metabolic Disease.

Holocarboxylase synthetase deficiency: Early diagnosis and management of a new case

T. Suormala, E. R. Baumgartner, M. Durán, 1993, European Journal of Pediatrics.

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.

T. Suormala, E. R. Baumgartner, H. Wick, 1985, Clinica chimica acta; international journal of clinical chemistry.

BiotinidaseKm-variants: detection and detailed biochemical investigations

T. Suormala, E. R. Baumgartner, V. Ramaekers, 1995, Journal of Inherited Metabolic Disease.

Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.

E. R. Baumgartner, P. Weber, S. Scholl, 2004 .

Outcome in patients with profound biotinidase deficiency: relevance of newborn screening

E. R. Baumgartner, P. Weber, S. Scholl, 2004, Developmental medicine and child neurology.

Detection of biocytin in urine of children with congenital biotinidase deficiency.

T. Suormala, E. R. Baumgartner, J. Bausch, 1984, International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition.

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

T. Suormala, E. R. Baumgartner, U. Stephani, 2003, Molecular genetics and metabolism.

Biotin determination by three different methods: specificity and application to urine and plasma ultrafiltrates of patients with and without disorders in biotin metabolism.

T. Suormala, E. R. Baumgartner, C. Bernoulli, 1998, International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition.

Cerebrospinal fluid organic acids in biotinidase deficiency

T. Suormala, E. R. Baumgartner, M. Durán, 1993, Journal of Inherited Metabolic Disease.

The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin.

M. Baumgartner, E. R. Baumgartner, G. Hoffmann, 2006, Neuropediatrics.

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: Long-term outcome in a case with neonatal onset

E. R. Baumgartner, W. Lehnert, H. Niederhoff, 1996, European Journal of Pediatrics.

Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure

T. Suormala, E. R. Baumgartner, U. Wiesmann, 1998, European Journal of Pediatrics.

Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.

T. Suormala, E. R. Baumgartner, H. Wick, 1984, Journal of inherited metabolic disease.

Na+-dependent biotin transport into brush-border membrane vesicles from human kidney cortex

E. R. Baumgartner, B. Baur, E. Baumgartner, 1993, Pflügers Archiv.

Biotinidase determination in serum and dried blood spots--high sensitivity fluorimetric ultramicro-assay.

E. R. Baumgartner, H. Rhode, M. Stopsack, 2001, Clinica chimica acta; international journal of clinical chemistry.

Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.

E. R. Baumgartner, D. Thorburn, D. Kirby, 2005, The Journal of pediatrics.

Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood–brain barrier

E. R. Baumgartner, B. Baur, E. Baumgartner, 2000, Brain Research.

Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion.

T. Suormala, E. R. Baumgartner, A. Wolf, 2002, International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition.

[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H].

T. Suormala, E. R. Baumgartner, I. Krägeloh-Mann, 1989, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.

Perioperative management of a child with very‐long‐chain acyl‐coenzyme A dehydrogenase deficiency

E. R. Baumgartner, W. Studer, L. Steiner, 2002, Paediatric anaesthesia.

Comparison of Folic Acid Coenzyme Distribution Patterns in Patients with Methylenetetrahydrofolate Reductase and Methionine Synthetase Deficiencies

E. R. Baumgartner, E. Stokstad, H. Wick, 1985, Pediatric Research.

Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.

E. R. Baumgartner, B. Steinmann, R. Maurer, 1979, Helvetica paediatrica acta.

Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.

E. R. Baumgartner, J. Linnell, C. Bachmann, 1979, Helvetica paediatrica acta.

Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

M. Baumgartner, T. Suormala, E. R. Baumgartner, 2007, Pediatric Research.

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Colin A. Johnson, E. R. Baumgartner, T. Meitinger, 2016, American journal of human genetics.

Acute Neonatal Nonketotic Hyperglycinemia: Normal Propionate and Methylmalonate Metabolism

E. R. Baumgartner, C. Bachmann, H. Wick, 1975, Pediatric Research.

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

M. Baumgartner, T. Suormala, E. R. Baumgartner, 2007, Molecular genetics and metabolism.

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

E. R. Baumgartner, Y. Anikster, A. Shaag, 2001, Molecular genetics and metabolism.

[Normal propionate metabolism in "non-ketotic hyperglycinemia"].

E. R. Baumgartner, H. Wick, 1972, The New England journal of medicine.

mut0 methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion‐insertion mutation

E. R. Baumgartner, F. Hildebrandt, A. Fuchshuber, 2000, Human mutation.

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

M. Baumgartner, E. R. Baumgartner, O. Devuyst, 2013, Molecular genetics and metabolism.