Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Acta Diabetologica

Volumn 50, Issue 6, 2013, Pages 951-957

  Grasso, Valeria ^a   Colombo, Carlo ^b   Favalli, Valeria ^c   Galderisi, Alfonso ^d   Rabbone, Ivana ^e   Gombos, Sara ^f   Bonora, Enzo ^g   Massa, Ornella ^a   Meschi, Franco ^c   Cerutti, Franco ^e   Iafusco, Dario ^h   Bonfanti, Riccardo ^c   Monciotti, Carla ^d   Barbetti, Fabrizio ^a,b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e UNIVERSITY OF TURIN   (Italy)

^f SANTOBONO PAUSILIPON CHILDREN S HOSPITAL   (Italy)

^g UNIVERSITY AND HOSPITAL TRUST OF VERONA   (Italy)

^h SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Bartter's syndrome; Extreme insulin resistance; Insulin receptor; Mutation

Indexed keywords

GLUCOSE; INSULIN; INSULIN RECEPTOR; LEVOTHYROXINE; MEROPENEM; METFORMIN; POTASSIUM; RECOMBINANT SOMATOMEDIN C;

ADOLESCENT; ARTICLE; BARTTER SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL SEVERE INSULIN RESISTANCE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; DRUG WITHDRAWAL; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLUCOSE BLOOD LEVEL; HETEROZYGOTE; HIRSUTISM; HUMAN; HYPERALDOSTERONISM; HYPERGLYCEMIA; HYPERRENINEMIA; HYPOKALEMIA; HYPOTHYROIDISM; INSR GENE; INSULIN RESISTANCE; INSULIN RESISTANCE TYPE A; KIDNEY CALCIFICATION; KLEBSIELLA INFECTION; LEPRECHAUNISM; MALE; METABOLIC DISORDER; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RABSON MENDENHALL SYNDROME; RECEPTOR GENE; SEPSIS; SEVERE INSULIN RESISTANCE;

ACANTHOSIS NIGRICANS; ADOLESCENT; BARTTER SYNDROME; CHILD, PRESCHOOL; DONOHUE SYNDROME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INSULIN RESISTANCE; MALE; MUTATION; NEPHROCALCINOSIS; RECEPTOR, INSULIN; SEVERITY OF ILLNESS INDEX;

EID: 84890566933     PISSN: 09405429     EISSN: 14325233     Source Type: Journal    
DOI: 10.1007/s00592-013-0490-x     Document Type: Article

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