Contiguous gene deletion syndrome in Xp21: The association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy;Síndrome de deleción de genes contiguos en Xp21: Asociación de deficiencia de glicerolcinasa, hipoplasia suprarrenal congénita y distrofia muscular de Duchenne

Revista de Neurologia

Volumn 44, Issue 10, 2007, Pages 606-609

  Pantoja Martínez, Jorge ^a   Martinez Castellano F ^b   Tarazona Casany, I ^c   Buesa Ibanez E ^c   Ardid Encinar, M ^a   Esparza Sanchez M A ^a   Bonet Arzo, J ^b  

^a HOSPITAL DE LA PLANA   (Spain)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

^c HOSPITAL GENERAL DE CASTELLÓN   (Spain)

Author keywords

Adrenal insufficiency congenital; Complex glycerol kinase deficiency; Duchenne muscular dystrophy; Glycerol kinase deficiency; Human chromosome pair 21; Mental retardation; Xp21 contiguous gene deletion syndrome

Indexed keywords

CORTICOSTEROID; GLYCEROL KINASE;

ADRENAL CORTEX HYPOPLASIA; ARTICLE; CASE REPORT; CHROMOSOME 21; CONTIGUOUS GENE DELETION SYNDROME; DIET RESTRICTION; ELECTROLYTE DISTURBANCE; ENZYME DEFICIENCY; FLUID THERAPY; GENETIC DISORDER; GLYCEROL KINASE DEFICIENCY; HUMAN; HYPERKALEMIA; HYPOGLYCEMIA; HYPONATREMIA; HYPOPLASIA; LETHARGY; MALE; MENTAL DEFICIENCY; METABOLIC ACIDOSIS; MUSCLE WEAKNESS; NEUROIMAGING; PHYSICAL EXAMINATION; SCHOOL CHILD; SODIUM DEPLETION; VOMITING; X CHROMOSOME LINKED MUSCULAR DYSTROPHIC MOUSE; CHILD; DUCHENNE MUSCULAR DYSTROPHY; GENE DELETION; GENETICS; SYNDROME; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

CHILD; CHROMOSOMES, HUMAN, X; GENE DELETION; GENETIC DISEASES, X-LINKED; GLYCEROL KINASE; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; SYNDROME;

EID: 34848836691     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.4410.2006581     Document Type: Article

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