Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Balasubramaniam, Shanti ^a   Bowling, Frank ^b   Carpenter, Kevin ^a,g   Earl, John ^a   Chaitow, Jeffrey ^a   Pitt, James ^c,d   Mornet, Etienne ^e,f   Sillence, David ^a,g   Ellaway, Carolyn ^a,g  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b MATER HOSPITAL   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e CENTRE HOSPITALIER DE VERSAILLES   (France)

^f LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^g UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; ALPL PROTEIN, HUMAN; ANTICONVULSIVE AGENT; BIOGENIC AMINE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXAMINE PHOSPHATE OXIDASE; VITAMIN B COMPLEX;

ARTICLE; CASE REPORT; ENZYMOLOGY; FATALITY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; HYPOPHOSPHATASIA; HYPOXIC ISCHEMIC ENCEPHALOPATHY; MALE; METABOLIC ENCEPHALOPATHY; METABOLISM; MUTATION; NEWBORN; PHENOTYPE; PYRIDOXINE DEFICIENCY; SEIZURE; TREATMENT OUTCOME; BRAIN DISEASES, METABOLIC; COMPLICATION; DEFICIENCY; HYPOXIA-ISCHEMIA, BRAIN; SEIZURES; VITAMIN B 6 DEFICIENCY;

ALKALINE PHOSPHATASE; ANTICONVULSANTS; BIOGENIC MONOAMINES; BRAIN DISEASES, METABOLIC; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOPHOSPHATASIA; HYPOXIA-ISCHEMIA, BRAIN; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; PYRIDOXAL PHOSPHATE; PYRIDOXAMINEPHOSPHATE OXIDASE; SEIZURES; TREATMENT OUTCOME; VITAMIN B 6 DEFICIENCY; VITAMIN B COMPLEX;

EID: 77954655162     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9012-y     Document Type: Article

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