Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations

Turkish Journal of Pediatrics

Volumn 47, Issue 2, 2005, Pages 167-169

  Saltik Temizel, Inci Nur ^a   Coşkun, Turgay ^a   Yüce, Aysel ^a   Koçak, Nurten ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Fanconi Bickel syndrome; Glycogenosis; Mutation analysis

Indexed keywords

BICARBONATE; GLUCOSE TRANSPORTER 2; PHOSPHORUS; STARCH; VITAMIN D;

ALKALINIZATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; DISORDERS OF CARBOHYDRATE METABOLISM; FANCONI BICKEL SYNDROME; FEMALE; GROWTH RETARDATION; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; KIDNEY TUBULE DISORDER; LIVER BIOPSY; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; RICKETS; TURKEY (REPUBLIC);

FANCONI SYNDROME; FEMALE; GLUCOSE TRANSPORTER TYPE 2; HOMOZYGOTE; HUMANS; INFANT; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; TURKEY;

EID: 20044389166     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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