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(MHBD) 2-Methyl-3-Hydroxybutyrl CoA Dehydrogenase deficiency
(2MBCD) 2-Methylbutyryl-CoA Dehydrogenase Deficiency
(HMG) 3-hydroxy-3 -methylglutaryl-CoA lyase deficiency
(3-MCC) 3-methylcrotonyl- CoA carboxylase deficiency
(MGA) 3-Methylglutaconic acidemia or 3-Methylglutaconyl-CoA Hydratase Deficiency
5-oxoprolinemia
(D2-HGA) D-2 Hydroxyglutaric Aciduria
(GA-I) Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I
(ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria
(IVA) Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia
(L2HGA) L-2-Hydroxy- glutaricaciduria
(MA) Malonyl-CoA Decarboxylase Deficiency aka Malonic Acidemia
(MMA) Methlymalonic Acidemia
(BKT) Mitochondrial Acetoacetyl CoA Thiolase- (3-Ketothiolase)
(MCD, holocarboxylase synthetase) Multiple carboxylase deficiency
(PA) Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia
(HIBCH) 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency
Stephen Cederbaum, MD
Mental Retardation Research Ctr./NPI
635 Charles E. Young Dr.
South Rm 347
Los Angeles, CA 90095-7332
Piero Rinaldo, MD, PhD
Mayo Clinic
Lab Genetics
200 First St., S.W.
Rochester, MN 55905
Richard Hillman, MD
Univ of Missouri Health Sciences Ctr
G-1 Metabolism Clinic
Department of Child Health
1 Hospital Drive
Columbia MO 65212
Charles P. Venditti MD, PhD
Genetic Disease Research Branch
National Human Genome Research
Institute
National Institutes of Health
Bldg 49, Room 4A56A
Bethesda, MD 20892-4472
Dr. Seymour Packman, MD
Dept of Pediatrics, Box 0748
Univ of California, San Francisco
San Francisco CA 94143-0748
Arthur B. Zinn, MD, PhD
Center for Human Genetics
CWRU/University Hospitals of Cleveland
11100 Euclid Avenue
Cleveland, Ohio 44106
Keiko Ueda, MPH, RD, LDN
Metabolic Dietitian
Department of Pediatrics/Division of
Metabolism
Floating Hospital for Children
New England Medical Center
750 Washington Street, NEMC#434
Boston, MA 02111

Stephen G. Kahler, MD

Professor, Division of Clinical Genetics

Department of Pediatrics

University of Arkansas for Medical Sciences

Division of Clinical Genetics Slot 512-22

Arkansas Children's Hospital

800 Marshall St.

Little Rock, AR  72202-3591

Dr. Susan Winter, MD
Valley Children’s Hospital
9300 Valley Children’s Place
C/O Medical Genetics/Metabolism SE11
Madera, CA 93638
J.V. Leonard, MD
40A Bagley Wood Road
Kennington Oxford OX1 5LY
United Kingdom
Dr. Olaf Bodamer FACMG
Biochemical Genetics and National Screening Laboratories
University Children's Hospital Vienna
Wahringer Gurtel 18-20
1090 Vienna
Austria
Mendel Tuchman, MD

Vice Chairman for Research

Scientific Director, Children's Research Institute

Professor of Pediatrics, Biochemistry & Molecular Biology

Children's National Medical Center
111 Michigan Avenue, NW
Washington, DC 20010-2970

Elaina Jurecki, MS, RD
Kaiser Permanente Medical Center
280 W. MacArthur Blvd.
Oakland, CA 94611
Jerry Vockley, MD, PhD
Professor of Human Genetics and
Pediatrics
Chief of Medical Genetics
Children's Hospital of Pittsburgh
3705 Fifth Avenue
Pittsburgh, PA 15213

 

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