Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
about
Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type IGuidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfallsDetection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population.Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.Mucopolysaccharidoses.A clinical multicenter study of orofacial features in 26 brazilian patients with different types of mucopolysaccharidosis.Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.Quality of life in mucopolysaccharidoses: construction of a specific measure using the focus group technique.Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights
P2860
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P2860
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
@en
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
@nl
type
label
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
@en
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
@nl
prefLabel
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
@en
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
@nl
P2093
P50
P356
P1476
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
@en
P2093
Ana de Paula
Angelina Acosta
Carlos Steiner
Ida Schwartz
Louise Pinto
Raquel Boy
Roberto Giugliani
Taiane Vieira
Verónica Muñoz
P2860
P304
P356
10.1002/AJMG.A.32320
P407
P577
2008-07-01T00:00:00Z