Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII-Reference-Cited by-同舟云学术

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

Published:2017-03-12 Issue:5 Volume:37 Page:435-439
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Kubaski Francyne¹²³^ORCID,Brusius-Facchin Ana Carolina⁴,Mason Robert W.¹²,Patel Pravin⁵,Burin Maira G.⁴,Michelin-Tirelli Kristiane⁴,Kessler Rejane Gus⁴,Bender Fernanda⁴,Leistner-Segal Sandra⁴⁶,Moreno Carolina A.⁷,Cavalcanti Denise P.⁷,Giugliani Roberto³⁴⁶⁸,Tomatsu Shunji¹²

Affiliation:

1. Nemours/Alfred I. duPont Hospital for Children; Wilmington DE USA

2. Department of Biological Sciences; University of Delaware; Newark DE USA

3. INAGEMP; Porto Alegre Rio Grande do Sul Brazil

4. Medical Genetics Service, HCPA; Porto Alegre Rio Grande do Sul Brazil

5. Graduate School of Biomedical Sciences; Thomas Jefferson University; Philadelphia PA USA

6. Post Graduation Program on Medical Sciences, UFRGS; Porto Alegre Rio Grande do Sul Brazil

7. Perinatal Genetic Program, Department of Medical Genetics; UNICAMP; Campinas Campinas, SP Brazil

8. Department of Genetics, UFRGS; Porto Alegre Rio Grande do Sul Brazil

Funder

National Institute of General Medical Sciences of NIH

National Institutes of Health

Instituto Nacional de Genética Médica Populacional

Conselho Nacional de Desenvolvimento Científico e Tecnológico from Brazil (CNPq)

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference61 articles.

1. Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis;Sly;J Pediatr,1973

2. Variation in the phenotypic expression of beta-glucuronidase deficiency;Beaudet;J Pediatr,1975

3. Beta-glucuronidase deficiency in a girl with unusual clinical features;Pfeiffer;Eur J Pediatr,1977

4. Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII);Gitzelmann;Helv Paediatr Acta,1978

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