Clinical manifestations and treatment of mucopolysaccharidosis type i patients in Latin America as compared with the rest of the world

Background Mucopolysaccharidosis I (MPS I) comprises a spectrum of clinical manifestations and is divided into three phenotypes reflecting clinical severity: Hurler, Hurler- Scheie, and Scheie syndromes. There may be important variations in clinical manifestations of this genetic disease in patients...

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Autores:

Tipo de recurso:

Fecha de publicación:

2011

Institución:

Universidad del Rosario

Repositorio:

Repositorio EdocUR - U. Rosario

Idioma:

eng

OAI Identifier:

oai:repository.urosario.edu.co:10336/22381

Acceso en línea:

https://doi.org/10.1007/s10545-011-9336-2
https://repository.urosario.edu.co/handle/10336/22381

Palabra clave:

Age
Article
Clinical feature
Cognitive defect
Controlled study
Cornea disease
Disease registry
Disease severity
Enzyme replacement
Geographic distribution
Hematopoietic stem cell transplantation
Hepatomegaly
Human
Hurler scheie syndrome
Hurler syndrome
Joint contracture
Kyphosis
Major clinical study
Mucopolysaccharidosis
Onset age
Phenotypic variation
Pneumonia
Prevalence
Scheie syndrome
Scoliosis
Sleep disorder
Snoring
South and central america
Tongue swelling
Tonsil disease
Valvular heart disease
Adolescent
Adult
Age of onset
Child
Comorbidity
Enzyme replacement therapy
Female
Geography
Hematopoietic stem cell transplantation
Humans
Iduronidase
Infant
Latin america
Male
Middle aged
Mucopolysaccharidosis i
Phenotype
Registries
Time factors
World health
Young adult
differential
newborn
preschool
Child
Diagnosis
Infant

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