Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy.

Potnis, Kunal C; Flueckinger, Lauren B; Ha, Christine I; Upadia, Jariya; Frush, Donald P; Kishnani, Priya S

Potnis, Kunal C; Flueckinger, Lauren B; Ha, Christine I; Upadia, Jariya; Frush, Donald P; Kishnani, Priya S.

Afiliação

Potnis KC; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Flueckinger LB; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Ha CI; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Upadia J; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Frush DP; Division of Pediatric Radiology, Department of Radiology, Duke University Medical Center, Durham, NC, USA.
Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: priya.kishnani@duke.edu.

Mol Genet Metab ; 126(2): 157-161, 2019 02.

Article em En | MEDLINE | ID: mdl-30448006

Assuntos

Osso e Ossos/efeitos dos fármacos; Terapia de Reposição de Enzimas/efeitos adversos; Doença de Gaucher/complicações; Doença de Gaucher/tratamento farmacológico; Adolescente; Assistência ao Convalescente; Osso e Ossos/patologia; Criança; Pré-Escolar; Humanos; Lactente; Cifose/etiologia; Masculino; Osteonecrose/etiologia

Palavras-chave

ACE; AVN; Avascular necrosis; BMD; Bone manifestations; CHITO; DXA; ERT; Enzyme replacement therapy; GD; Gaucher disease; MRI; Osteonecrosis; SRT; TRAP; angiotensin-converting enzyme; avascular necrosis; bone mineral density; chitotriosidase; dual-energy X-ray absorptiometry; enzyme replacement therapy; magnetic resonance imaging; substrate reduction therapy; tartrate-resistant acid phosphatase

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osso e Ossos / Terapia de Reposição de Enzimas / Doença de Gaucher Tipo de estudo: Etiology_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos

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