Fanconi-Bickel syndrome: Report of life history and successful pregnancy in an affected patient

American Journal of Medical Genetics, Part A

Volumn 155, Issue 2, 2011, Pages 415-417

  Pena, Loren ^a   Charrow, Joel ^b,c  

^a UNIVERSITY OF CHICAGO   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

Fanconi Bickel syndrome; Glycogen storage disease

Indexed keywords

ALKALINE PHOSPHATASE; CHOLESTEROL; GLYCOGEN; LOW DENSITY LIPOPROTEIN; PHOSPHATE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; AMINOACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CESAREAN SECTION; CHILD; CHOLESTEROL BLOOD LEVEL; FANCONI BICKEL SYNDROME; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GLUCOSURIA; HEPATOMEGALY; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; IMPAIRED GLUCOSE TOLERANCE; INBORN ERROR OF METABOLISM; INFANT; KIDNEY TUBULE DISORDER; LEG FRACTURE; LIFE HISTORY; LIVER BIOPSY; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEWBORN; OSTEOPENIA; PREGNANCY DIABETES MELLITUS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; SCHOOL CHILD; SEQUENCE ANALYSIS; SLC2A2 GENE; STOP CODON;

ADULT; DIABETES, GESTATIONAL; FANCONI SYNDROME; FEMALE; GLUCOSE TOLERANCE TEST; GLUCOSE TRANSPORTER TYPE 2; HUMANS; LONGITUDINAL STUDIES; MALE; PHENOTYPE; PREGNANCY; PREGNANCY OUTCOME;

EID: 79251483160     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33822     Document Type: Article

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