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Hypokolemic paralysis and megaloblastic anaemia in laurence-moon-bardet-biedl syndrome
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2009; 19 (3): 186-188
em Inglês | IMEMR | ID: emr-91629
ABSTRACT
Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous autosomal recessive disorder, characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological features. Herein, 2 patients with Laurence-Moon-Bardet-Biedl syndrome are described, who had features of persistent hypokalemia and megaloblastic anemia
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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Paralisia Periódica Hipopotassêmica / Síndrome de Bardet-Biedl / Hipopotassemia / Anemia Megaloblástica Tipo de estudo: Relato de Casos Limite: Humanos / Masculino Idioma: Inglês Revista: J. Coll. Physicians Surg. Pak. Ano de publicação: 2009

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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Paralisia Periódica Hipopotassêmica / Síndrome de Bardet-Biedl / Hipopotassemia / Anemia Megaloblástica Tipo de estudo: Relato de Casos Limite: Humanos / Masculino Idioma: Inglês Revista: J. Coll. Physicians Surg. Pak. Ano de publicação: 2009