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E Regula Baumgartner Selected Research

Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)

7/2004Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.
7/2002Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion.
1/2002Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells.

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E Regula Baumgartner Research Topics

Disease

3Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)
07/2004 - 01/2002
1Mitochondrial Diseases (Mitochondrial Disease)
01/2016
1Cardiomyopathies (Cardiomyopathy)
01/2016
1Cardiac Sudden Death (Sudden Cardiac Arrest)
01/2016
1Chronic Kidney Failure (Chronic Renal Failure)
08/2007
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
08/2007
1Cysts
07/2005
1Muscle Hypotonia (Hypotonia)
07/2005
1Holocarboxylase Synthetase Deficiency
07/2005
1Pyruvate dehydrogenase phosphatase deficiency
07/2005
1Seizures (Absence Seizure)
11/2004
1Thrombotic Microangiopathies
08/2002
1Hematuria
08/2002
1Hemolysis
08/2002
1Neurologic Manifestations (Neurological Manifestations)
08/2002
1Proteinuria
08/2002
1Sarcoma (Soft Tissue Sarcoma)
07/2002
1Glioma (Gliomas)
07/2002
1Neuroblastoma
01/2002
1Astrocytoma (Pilocytic Astrocytoma)
01/2002

Drug/Important Bio-Agent (IBA)

5Biotin (Vitamin H)FDA Link
07/2005 - 01/2002
2Proteins (Proteins, Gene)FDA Link
01/2016 - 07/2005
1Inorganic Pyrophosphatase (Pyrophosphatase, Inorganic)IBA
01/2016
1cobamamide (adenosylcobalamin)IBA
08/2007
1Methylmalonic AcidIBA
08/2007
1Methylmalonyl-CoA MutaseIBA
08/2007
1Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA
07/2005
1Lactic Acid (Lactate)FDA LinkGeneric
07/2005
1CreatinineIBA
08/2002
1Retinaldehyde (Retinal)IBA
08/2002
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
08/2002
1biocytinIBA
01/2002

Therapy/Procedure

1Therapeutics
11/2004