Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations

Pediatrics International

Volumn 51, Issue 6, 2009, Pages 775-779

  Nishiyama, Atsushi ^a   Yagi, Mariko ^a   Awano, Hiroyuki ^a   Okizuka, Yo ^a   Maeda, Taro ^b   Yoshida, Shinsaku ^c   Takeshima, Yasuhiro ^a   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Public Shiso General Hospital   (Japan)

^c Toyooka Hospital   (Japan)

Author keywords

Berardinelli Seip syndrome; BSCL2; Congenital generalized lipodystrophy; Insulin resistance

Indexed keywords

INSULIN;

ARTICLE; CLINICAL ARTICLE; CONGENITAL GENERALIZED LIPODYSTROPHY; FEMALE; GENE MUTATION; GENE SEQUENCE; GLUCOSE BLOOD LEVEL; HOMEOSTASIS; HUMAN; INFANT; INSULIN RELEASE; INSULIN RESISTANCE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; ORAL GLUCOSE TOLERANCE TEST; PRIORITY JOURNAL;

CHROMOSOME ABERRATIONS; CODON, NONSENSE; CONSANGUINITY; DIABETES MELLITUS, TYPE 1; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GENES, RECESSIVE; GLUCOSE TOLERANCE TEST; GTP-BINDING PROTEIN GAMMA SUBUNITS; HEPATOMEGALY; HUMANS; INFANT; INFANT, NEWBORN; INSULIN RESISTANCE; JAPAN; LIPODYSTROPHY, CONGENITAL GENERALIZED; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; TOMOGRAPHY, X-RAY COMPUTED; TRIGLYCERIDES;

EID: 73349134670     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2009.02863.x     Document Type: Article

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