Literature DB >> 27785713

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis.

Ankur Singh1, Rajniti Prasad2, Aditya Kumar Gupta2, Anil Sharma2, Sandra Alves3, Maria Francisca Coutinho3, Seema Kapoor4, Om Prakash Mishra2.   

Abstract

Mucopolysaccharidosis (MPS) and Mucolipidosis (ML) share common phenotypes (coarse facial features, organomegaly, dysostosis multiplex) despite having different molecular basis. Thus, they pose great diagnostic challenge to treating clinicians. Differentiating between the two conditions requires a battery of tests from screening to molecular diagnosis. Besides discussing differential diagnosis of MPS like features with negative urinary Glycosaminoglycans (GAG), the authors also discuss the utility of p-nitrocatechol sulphate based chemical test as an important screening tool, besides establishing molecular basis in index case.

Entities:  

Keywords:  GNPTAB; Molecular characterization; Mucolipidosis type II alpha/beta (ML II alpha/beta); p-nitrocatechol sulphate (p-NCS)

Mesh：

Substances：

Year:  2016        PMID： 27785713     DOI： 10.1007/s12098-016-2243-7

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  9 in total

1.  Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

Authors:  Maria Francisca Coutinho; Liliana da Silva Santos; Katta Mohan Girisha; Kapaettu Satyamoorthy; Lúcia Lacerda; Maria João Prata; Sandra Alves
Journal:  Am J Med Genet A       Date:  2012-04-11       Impact factor: 2.802

2.  Diagnostic strategy for mucolipidosis II/III.

Authors:  J Sheth; M Mistri; M Kamate; S Vaja; F J Sheth
Journal:  Indian Pediatr       Date:  2012-06-10       Impact factor: 1.411

3.  Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.

Authors:  Kyung Hoon Paik; Seng Mi Song; Chang Seok Ki; Han-Wook Yu; Jung Sim Kim; Ki Hoon Min; Soo Hee Chang; Eun Jae Yoo; In Jung Lee; Eun Kyung Kwan; Sun Joo Han; Dong-Kyu Jin
Journal:  Hum Mutat       Date:  2005-10       Impact factor: 4.878

4.  Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

Authors:  Stephan Tiede; Stephan Storch; Torben Lübke; Bernard Henrissat; Ruth Bargal; Annick Raas-Rothschild; Thomas Braulke
Journal:  Nat Med       Date:  2005-10-02       Impact factor: 53.440

5.  Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation.

Authors:  Shagun Aggarwal; Maria Francisca Coutinho; Ashwin B Dalal; S Jamal Mohamed Nurul Jain; Maria João Prata; Sandra Alves
Journal:  Gene       Date:  2014-03-28       Impact factor: 3.688

6.  Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.

Authors:  Sheela Nampoothiri; Dhanya Yesodharan; Gazel Sainulabdin; Dhanyalakshmi Narayanan; Laxmi Padmanabhan; Katta Mohan Girisha; Sara S Cathey; Anne De Paepe; Fransiska Malfait; Delfien Syx; Raoul C Hennekam; Luisa Bonafe; Sheila Unger; Andrea Superti-Furga
Journal:  Am J Med Genet A       Date:  2014-07-14       Impact factor: 2.802

7.  Screening patients referred to a metabolic clinic for lysosomal storage disorders.

Authors:  Maria Fuller; Justin N Tucker; Debbie L Lang; Caroline J Dean; Michael J Fietz; Peter J Meikle; John J Hopwood
Journal:  J Med Genet       Date:  2011-03-17       Impact factor: 6.318

8.  Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Authors:  M Encarnação; L Lacerda; R Costa; M J Prata; M F Coutinho; H Ribeiro; L Lopes; M Pineda; J Ignatius; H Galvez; A Mustonen; P Vieira; M R Lima; S Alves
Journal:  Clin Genet       Date:  2009-07       Impact factor: 4.438

9.  Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.

Authors:  G K Cury; U Matte; O Artigalás; T Alegra; R V Velho; F Sperb; M G Burin; E M Ribeiro; C M Lourenço; C A Kim; E R Valadares; M F Galera; A X Acosta; I V D Schwartz
Journal:  Gene       Date:  2013-04-06       Impact factor: 3.688
  9 in total
  3 in total

1.  Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.

Authors:  José Ricardo Magliocco Ceroni; Gustavo Marquezani Spolador; Diana Salazar Bermeo; Rachel Sayuri Honjo; Luiz Antonio Nunes de Oliveira; Débora Romeo Bertola; Chong Ae Kim
Journal:  Skeletal Radiol       Date:  2019-02-02       Impact factor: 2.199

2.  Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis.

Authors:  Ankur Singh; Rajniti Prasad; Om Prakash Mishra
Journal:  J Pediatr Genet       Date:  2020-01-02

Review 3.  Mucolipidoses Overview: Past, Present, and Future.

Authors:  Shaukat A Khan; Saori C Tomatsu
Journal:  Int J Mol Sci       Date:  2020-09-17       Impact factor: 5.923
  3 in total

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