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Medical genetics / Newborn screening / Isovaleric acidemia / Methylmalonic acidemia / Propionic acidemia / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Fatty-acid metabolism disorder / Acyl CoA dehydrogenase / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Genetic genealogy


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Document Date: 2014-12-15 13:01:02

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Company

acyl-CoA / /

Facility

Phoenix Children’s Hospital Arizona Respiratory Center / Phoenix Children’s Hospital / /

MedicalCondition

Galactosemia / Trifunctional protein deficiency / Tyrosinemia / disease / PKU / Fatty Acid Oxidation Disorders Carnitine uptake defect / Biotinidase Deficiency / Multiple carboxylase deficiency / Cystic Fibrosis / TSH Hemoglobinopathies / MS / carboxylase deficiency / µmol/L Beta-ketothiolase deficiency / Citrullinemia / Hb Congenital Adrenal Hyperplasia / Homocystinuria / /

Organization

Department of Pediatrics Hematology/Oncology / Newborn Screening Consultation Endocrinology Division of Endocrinology and Diabetes / Health Science Center / Center for Cancer and Blood Disorders / Division of Genetics and Metabolism / Children’s Hospital Arizona Respiratory Center / Phoenix Children’s Hospital / Arizona Department of Health Services / /

Person

Brad Golner / Genetics Kirk Aleck / Phil James / Physicians Hematology Neha Bhasin / /

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Position

U/g Hb / /

ProvinceOrState

Maryland / /

RadioStation

CFTR / /

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