Literature DB >> 12859417

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.

I Schwartz, L R Silva, S Leistner, L A Todeschini, M G Burin, J M Pina-Neto, R M Islam, G N Shah, W S Sly, R Giugliani.   

Abstract

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Year:  2003        PMID： 12859417     DOI： 10.1034/j.1399-0004.2003.00119.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

1.  Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

Authors:  Francyne Kubaski; Ana Carolina Brusius-Facchin; Robert W Mason; Pravin Patel; Maira G Burin; Kristiane Michelin-Tirelli; Rejane Gus Kessler; Fernanda Bender; Sandra Leistner-Segal; Carolina A Moreno; Denise P Cavalcanti; Roberto Giugliani; Shunji Tomatsu
Journal:  Prenat Diagn       Date:  2017-03-12       Impact factor: 3.050

2.  Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Authors:  Mohamed H Al-Hamed; Wesam Kurdi; Rubina Khan; Maha Tulbah; Maha AlNemer; Nada AlSahan; Maisoon AlMugbel; Rafiullah Rafiullah; Mirna Assoum; Dorota Monies; Zeeshan Shah; Zuhair Rahbeeni; Nada Derar; Fahad Hakami; Gawaher Almutairi; Afaf AlOtaibi; Wafaa Ali; Amal AlShammasi; Wardah AlMubarak; Samia AlDawoud; Saja AlAmri; Bashayer Saeed; Hanifa Bukhari; Mohannad Ali; Rana Akili; Laila Alquayt; Samia Hagos; Hadeel Elbardisy; Asma Akilan; Nora Almuhana; Abrar AlKhalifah; Mohamed Abouelhoda; Khushnooda Ramzan; John A Sayer; Faiqa Imtiaz
Journal:  Hum Genet       Date:  2021-12-01       Impact factor: 4.132

Review 3.  Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

Authors:  Shunji Tomatsu; Adriana M Montaño; Vu Chi Dung; Jeffrey H Grubb; William S Sly
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

Review 4.  Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.

Authors:  Roberto Giugliani; Anneliese Lopes Barth; Melissa Rossi Calvão Dumas; José Francisco da Silva Franco; Liane de Rosso Giuliani; Carlos Henrique Paiva Grangeiro; Dafne Dain Gandelman Horovitz; Chong Ae Kim; Emilia Katiane Embiruçu de Araújo Leão; Paula Frassinetti Vasconcelos de Medeiros; Diego Santana Chaves Geraldo Miguel; Maria Espírito Santo Almeida Moreira; Helena Maria Guimarães Pimentel Dos Santos; Luiz Carlos Santana da Silva; Luiz Roberto da Silva; Isabel Neves de Souza; Tatiele Nalin; Daniel Garcia
Journal:  Orphanet J Rare Dis       Date:  2021-05-22       Impact factor: 4.123

5.  Glycosaminoglycan storage disorders: a review.

Authors:  Maria Francisca Coutinho; Lúcia Lacerda; Sandra Alves
Journal:  Biochem Res Int       Date:  2011-10-05

6.  Quality of life in mucopolysaccharidoses: construction of a specific measure using the focus group technique.

Authors:  M R Oliveira; I Schwartz; L S Costa; H Maia; M Ribeiro; L B Guerreiro; A Acosta; N S Rocha
Journal:  BMC Res Notes       Date:  2018-01-15
  6 in total

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