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  • 1-3 ل  3 نتائج ل ""Adolescente""

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Publication : orphanet journal of rare diseases فلترة بواسطة : مؤلف
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Academic Journal

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.

Subjects: Rare Diseases*/Rare Diseases*/Rare Diseases*/epidemiology; Humans ; Retrospective Studies

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 30; Vol. 19 (1), pp. 405. Date of Electronic Publication: 2024 Oct 30.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.

  • Authors : Cintra HA; Laboratório de Alta Complexidade, Instituto Nacional da Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira, Fiocruz, Rio de Janeiro, Brazil.; Rocha DN

Subjects: Prader-Willi Syndrome*/Prader-Willi Syndrome*/Prader-Willi Syndrome*/genetics ; Genotype* ; Phenotype*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jun 20; Vol. 19 (1), pp. 240. Date of Electronic Publication: 2024 Jun 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.

  • Authors : Horovitz DD; Instituto Nacional de Saude da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, Brazil. .; Acosta AX

Subjects: Iduronidase/Iduronidase/Iduronidase/*administration & dosage ; Iduronidase/Iduronidase/Iduronidase/*therapeutic use ; Mucopolysaccharidosis I/Mucopolysaccharidosis I/Mucopolysaccharidosis I/*drug therapy

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 Apr 29; Vol. 11 (1), pp. 51. Date of Electronic Publication: 2016 Apr 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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  • 1-3 ل  3 نتائج ل ""Adolescente""