Literature DB >> 7468596

Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.

V M Der Kaloustian, M J Khoury, R Hallal, Z H Idriss, M E Deeb, N W Wakid, F S Haddad.   

Abstract

All cases clinically diagnosed as Tay-Sachs disease at the American University Hospital, Beirut, during a period of 22 years (1957--1979) were reviewed. Of a total of 15 cases, seven had serum hexosaminidase tested and proved to have Sandhoff disease. In two other cases, parents were tested and found to be Sandhoff carriers. These results indicate that Sandhoff disease is relatively prevalent in Lebanon and that it may represent the more common form of infantile GM2 gangliosidosis in this country.

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Year:  1981        PMID： 7468596      PMCID： PMC1684873     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  11 in total

1.  Two variant hexosaminidase beta-chain alleles segregating in a South African family.

Authors:  A B Lane; T Jenkins
Journal:  Clin Chim Acta       Date:  1978-07-15       Impact factor: 3.786

2.  Gm2-gangliosidosis with total hexosaminidase deficiency.

Authors:  Y Suzuki; J C Jacob; K Suzuki; K M Kutty; K Suzuki
Journal:  Neurology       Date:  1971-04       Impact factor: 9.910

3.  Sandhoff's disease (GM2gangliosidosis, type 2) in a Scottish family.

Authors:  A D Bain; R Tateson; J M Anderson; J N Cumings
Journal:  J Ment Defic Res       Date:  1972-06

4.  Brain aluminum distribution in Alzheimer's disease and experimental neurofibrillary degeneration.

Authors:  D R Crapper; S S Krishnan; A J Dalton
Journal:  Trans Am Neurol Assoc       Date:  1973

5.  Sandhoff's disease (GM 2 gangliosidosis type 2): clinical, chemical, and enzyme studies in five patients.

Authors:  S Okada; M McCrea; J S O'Brien
Journal:  Pediatr Res       Date:  1972-07       Impact factor: 3.756

6.  Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff's disease (variant of Tay-Sachs disease).

Authors:  W Krivit; R J Desnick; J Lee; J Moller; F Wright; C C Sweeley; P D Snyder; H L Sharp
Journal:  Am J Med       Date:  1972-06       Impact factor: 4.965

7.  Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.

Authors:  K Sandhoff; U Andreae; H Jatzkewitz
Journal:  Life Sci       Date:  1968-03-15       Impact factor: 5.037

8.  [Sandhoff's disease: clinical and genetic study of a French-Canadian child].

Authors:  S B Melançon; M Potier; G Geoffroy; L Dallaire
Journal:  Union Med Can       Date:  1974-07

9.  Carrier detection in Sandhoff disease.

Authors:  J A Lowden; E J Ives; D L Keene; A L Burton; M A Skomorowski; F Howard
Journal:  Am J Hum Genet       Date:  1978-01       Impact factor: 11.025

10.  A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.

Authors:  W G Johnson; A Chutorian; A Miranda
Journal:  Neurology       Date:  1977-11       Impact factor: 9.910
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  12 in total

1.  Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations.

Authors:  R M Cantor; C Roy; J S Lim; M M Kaback
Journal:  Am J Hum Genet       Date:  1987-07       Impact factor: 11.025

2.  Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus.

Authors:  Y Hara; P Ioannou; A Drousiotou; G Stylianidou; V Anastasiadou; K Suzuki
Journal:  Hum Genet       Date:  1994-08       Impact factor: 4.132

3.  Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition?

Authors:  D Alexander; G Dudin; F Talj; F Bitar; M Deeb; A Khudr; M Abboud; V M Der Kaloustian
Journal:  Am J Hum Genet       Date:  1984-09       Impact factor: 11.025

4.  Natural history of infantile G(M2) gangliosidosis.

Authors:  Annette E Bley; Ourania A Giannikopoulos; Doug Hayden; Kim Kubilus; Cynthia J Tifft; Florian S Eichler
Journal:  Pediatrics       Date:  2011-10-24       Impact factor: 7.124

5.  Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

Authors:  K Neote; B McInnes; D J Mahuran; R A Gravel
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

6.  Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.

Authors:  R M Cantor; J S Lim; C Roy; M M Kaback
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

7.  Spectrum of paediatric lysosomal storage disorders in oman.

Authors:  Almundher A Al-Maawali; Surendra N Joshi; Roshan L Koul; Ali A Al-Maawali; Hilal S Al-Sedari; Bader M Al-Amri; Amna M Al-Futaisi
Journal:  Sultan Qaboos Univ Med J       Date:  2012-07-15

8.  Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.

Authors:  F E Kleiman; R D de Kremer; A O de Ramirez; R A Gravel; C E Argaraña
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

9.  GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

Authors:  Parvaneh Karimzadeh; Narjes Jafari; Habibeh Nejad Biglari; Sayena Jabbeh Dari; Farzad Ahmad Abadi; Mohammad-Reza Alaee; Hamid Nemati; Sasan Saket; Seyed Hasan Tonekaboni; Mohammad-Mahdi Taghdiri; Mohammad Ghofrani
Journal:  Iran J Child Neurol       Date:  2014

10.  Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model.

Authors:  Evan Woodley; Karlaina J L Osmon; Patrick Thompson; Christopher Richmond; Zhilin Chen; Steven J Gray; Jagdeep S Walia
Journal:  Mol Ther Methods Clin Dev       Date:  2018-10-26       Impact factor: 6.698
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