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Biology / Maple syrup urine disease / Branched-chain alpha-keto acid dehydrogenase complex / Inborn error of metabolism / Newborn screening / Branched-chain amino acid / Dihydrolipoamide dehydrogenase / Propionic acidemia / Methylmalonic acidemia / Health / Rare diseases / Medicine


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Document Date: 2007-06-25 16:37:12


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City

OMIM / New York / /

Company

Gartner / Hoover / Neonatal Management / Allegri AE / Barschak AG / Russell / Lee HF / Burlina AB / Harding CO / McGraw-Hill / /

Country

Taiwan / Israel / Wales / /

Event

FDA Phase / /

Facility

Arch Dis Child / /

IndustryTerm

carrier-frequency determination / brain energy metabolism / diffusion imaging / carrier frequency determination / treatment of maple syrup disease / /

MedicalCondition

neonatal maple syrup urine disease / ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY / DF / Intermittent maple syrup disease / organic acid disorders / KETO ACID DECARBOXYLASE DEFICIENCY / maple syrup disease / seizures / gastroenteritis / Thiamin-responsive maple syrup urine disease / maple syrup urine disease encephalopathy / metabolic stroke / classical maple syrup urine disease / Filipino maple syrup urine disease / LIPOAMIDE DEHYDROGENASE DEFICIENCY / Neurological manifestations / Inherited Disease / pancreatitis / BRANCHED-CHAIN KETOACIDURIA / inborn errors of metabolism / acute intermittent maple syrup urine disease / deficiency / MS / MAPLE SYRUP URINE DISEASE / reversible blindness / autosomal recessive disease / /

MedicalTreatment

vitamin therapy / intravenous hyperalimentation / nutritional support / hemodialysis / /

Person

Arch Pediatr Adolesc Med / Van Calcar / Arch Med Res / Ann N Y Acad Sci / /

Position

diver / Wasserstein MP / Carpenter / /

Product

maple / /

RadioStation

Schaefer AM / Sgaravatti AM / /

Technology

ALPHA / spectroscopy / gas chromatography / transplantation / recombination / apoptosis / MRI / /

URL

www.geneclinics.org / www.genetics.accessmedicine.com / /

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