Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.

Guffon, Nathalie; Journeau, Pierre; Brassier, Anaïs; Leger, Juliane; Chevallier, Bertrand

Guffon, Nathalie; Journeau, Pierre; Brassier, Anaïs; Leger, Juliane; Chevallier, Bertrand.

Afiliación

Guffon N; Reference center of Inherited Metabolic disorder, CERLYMM, Département de Pédiatrie, HCL Hopital Femme Mère Enfant, 59 Boulevard Pinel, 69677, Bron cedex, France. nathalie.guffon-fouilhoux@chu-lyon.fr.
Journeau P; Paediatric Orthopaedic Surgery Department, Lorraine University Hospital Centre, Children's Hospital, Vandoeuvre lès Nancy, France.
Brassier A; Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.
Leger J; Assistance Publique-Hôpitaux de Paris, Robert Debré University Hospital, Pediatric Endocrinology Diabetology Department, Reference Centre for Endocrine Growth and Development Diseases, Paris Diderot University, Sorbonne Paris Cité, F-75019, Paris, France.
Chevallier B; Groupe de Pédiatrie Générale - Société Française de Pédiatrie, Boulogne-Billancourt, Department of Pediatrics and Pediatric Emergency, Ambroise-Paré Hospital, Boulogne-Billancourt, France.

Eur J Pediatr ; 178(4): 593-603, 2019 Apr.

Article en En | MEDLINE | ID: mdl-30740618

Asunto(s)

Mucopolisacaridosis/diagnóstico; Adolescente; Niño; Preescolar; Gráficos de Crecimiento; Trastornos del Crecimiento/diagnóstico; Trastornos del Crecimiento/metabolismo; Humanos; Mucopolisacaridosis/fisiopatología; Rango del Movimiento Articular

Palabras clave

Algorithm; Attenuated mucopolysaccharidosis; Delayed puberty; Dysostosis multiplex; Early diagnosis; Enzyme replacement therapy; Glycosaminoglycans; Growth impairment; Joint contractures; Lysosomal enzyme deficiency

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mucopolisacaridosis Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Adolescent / Child / Child, preschool / Humans Idioma: En Revista: Eur J Pediatr Año: 2019 Tipo del documento: Article País de afiliación: Francia

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google