Physician

Medical Genetics

Dr. Rebecca Mardach, MD

Rebecca Mardach is an expert in the field of Medical Genetics. Rebecca Mardach has written publications. She has 10 publications published with PubMed. The lastest publication is: 'Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.'

Publications

Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32.
Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.
Mitochondrial myopathy associated with a novel mutation in mtDNA.
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy.
Biotin dependency due to a defect in biotin transport.
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses.
Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.

Schools

Pontificia Universidad Javeriana Facultad De Medicina
St Lukes Roosevelt Hospital Center
UCLA Center For Health Scis

Doctors Specialties

Clinical Biochemical Genetics
Clinical Genetics
Pediatrics
Medical Genetics

Accepted Insurances

Education

UCLA Medical Center
St Luke's-Roosevelt Hospital Center
Pontifical Xavierian University

Hospital

Mattel Children's Hospital UCLA

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