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Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.
Balasubramaniam, Shanti; Bowling, Frank; Carpenter, Kevin; Earl, John; Chaitow, Jeffrey; Pitt, James; Mornet, Etienne; Sillence, David; Ellaway, Carolyn.
Affiliation
  • Balasubramaniam S; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, Australia.
J Inherit Metab Dis ; 33 Suppl 3: S25-33, 2010 Dec.
Article in En | MEDLINE | ID: mdl-20049532
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Full text: 1 Database: MEDLINE Main subject: Pyridoxal Phosphate / Pyridoxaminephosphate Oxidase / Vitamin B 6 Deficiency / Seizures / Brain Diseases, Metabolic / Biogenic Monoamines / Hypoxia-Ischemia, Brain / Alkaline Phosphatase / Hypophosphatasia / Mutation Type of study: Diagnostic_studies Limits: Female / Humans / Male / Newborn Language: En Year: 2010 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Pyridoxal Phosphate / Pyridoxaminephosphate Oxidase / Vitamin B 6 Deficiency / Seizures / Brain Diseases, Metabolic / Biogenic Monoamines / Hypoxia-Ischemia, Brain / Alkaline Phosphatase / Hypophosphatasia / Mutation Type of study: Diagnostic_studies Limits: Female / Humans / Male / Newborn Language: En Year: 2010 Type: Article