Literature DB >> 19268021

Hypokalemic paralysis and megaloblastic anaemia in Laurence-Moon-Bardet-Biedl syndrome.

Amanullah Abbasi1, Nazish Butt, Baseer Sultan, S M Munir.   

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.

Entities:  

Mesh:

Year:  2009        PMID: 19268021     DOI: 03.2009/JCPSP.186188

Source DB:  PubMed          Journal:  J Coll Physicians Surg Pak        ISSN: 1022-386X            Impact factor:   0.711


  5 in total

1.  A case report on the bardet biedl syndrome with hypokalaemic paralysis.

Authors:  Prasanth Y M; Mohammed Ashraf; Venkatesh B M; Sharol Menezes; Abraham Mohan
Journal:  J Clin Diagn Res       Date:  2013-06-01

2.  Primary Hypertension as the Presenting Feature of Laurence-Moon-Bardet-Biedl Syndrome: A Report of Two Children.

Authors:  Vijayakumary Thadchanamoorthy; Nadeesha Jayasekara; Kavinda Dayasiri
Journal:  Cureus       Date:  2021-01-11

3.  Laurence-Moon-Bardet-Biedl Syndrome: A Case Report.

Authors:  Bilal Ahmed Khan; Ashar Shahid; Maaz Bin Nazir; Kiran Shafiq Khan; Avinash Punshi
Journal:  Cureus       Date:  2019-09-10

Review 4.  Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.

Authors:  Neha Gupta; Mariavittoria D'Acierno; Enrica Zona; Giovambattista Capasso; Miriam Zacchia
Journal:  Am J Med Genet C Semin Med Genet       Date:  2022-04-04       Impact factor: 3.359

5.  Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan.

Authors:  Laila Tul Qadar; Zohaib M Ahmed; Maham Munawar; Choudhary A Hasan; Syed Umair Iqbal
Journal:  Cureus       Date:  2019-06-11
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.