Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations.
Pediatr Neurol
; 21(5): 826-9, 1999 Nov.
Article
en En
| MEDLINE
| ID: mdl-10593675
ABSTRACT
Pipecolic acid is a biochemical marker frequently detected in group 1 peroxisomal disorders (peroxisomal biogenesis disorders). Its presence, in addition to the constellation of particular phenotypic manifestations and pathologic findings, has led to its recent classification under disorders of peroxisomal biogenesis as a separate disease entity (hyperpipecolic acidemia or hyperpipecolatemia). The clinical, biochemical, and radiologic findings observed in three patients diagnosed with hyperpipecolic acidemia are reported.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ácidos Pipecólicos
/
Encéfalo
/
Tomografía Computarizada por Rayos X
/
Trastorno Peroxisomal
Límite:
Child, preschool
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Pediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
1999
Tipo del documento:
Article
País de afiliación:
Arabia Saudita