Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency

American Journal of Medical Genetics, Part A

Volumn 167, Issue 12, 2015, Pages 3139-3143

  Loewenthal, Neta ^a   Haim, Alon ^a   Parvari, Ruti ^b   Hershkovitz, Eli ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

PGM1 mutation; Phosphoglucumutase 1 deficiency; Secondary adrenal insufficiency

Indexed keywords

CORTICOTROPIN; INSULIN; PHOSPHOGLUCOMUTASE; PGM1 PROTEIN, HUMAN;

ADOLESCENT; ADRENAL INSUFFICIENCY; ADULT; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CORTICOTROPIN BLOOD LEVEL; DISEASE ASSOCIATION; ENZYME DEFICIENCY; EXOME; FEMALE; GENE SEQUENCE; GENOTYPE; GROWTH HORMONE DEFICIENCY; HOMOZYGOTE; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPOGLYCEMIA; INSULIN BLOOD LEVEL; LEARNING DISORDER; MALE; PGM1 GENE; PHOSPHOGLUCOMUTASE 1 DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; YOUNG ADULT; CASE REPORT; DEFICIENCY; GENETICS; GLYCOGEN STORAGE DISEASE; MUTATION; PEDIGREE; PHENOTYPE; PROGNOSIS;

ADOLESCENT; ADRENAL INSUFFICIENCY; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GLYCOGEN STORAGE DISEASE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHOGLUCOMUTASE; PROGNOSIS; YOUNG ADULT;

EID: 84959357257     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37294     Document Type: Article

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