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Does the clinical phenotype of mucolipidosis-IIIγ differ from its αß counterpart?: supporting facts in a cohort of 18 patients.
Nampoothiri, Sheela; Elcioglu, Nursel H; Koca, Suleyman S; Yesodharan, Dhanya; Kk, Chandrababu; Krishnan, Vinod; Bhat, Meenakshi; Radhakrishnan, Natasha; Kappanayil, Mahesh; Sheth, Jayesh J; Alves, Sandra; Coutinho, Francisca; Friez, Michael J; Pauli, Richard M; Unger, Sheila; Superti-Furga, Andrea; Leroy, Jules G; Cathey, Sara S.
Afiliação
  • Nampoothiri S; Departments of Pediatric Genetics.
  • Elcioglu NH; Department of Pediatric Genetics, Marmara University Faculty of Medicine, Istanbul.
  • Koca SS; Department of Rheumatology, Firat University Faculty of Medicine, Elazig, Turkey.
  • Yesodharan D; Departments of Pediatric Genetics.
  • Kk C; Orthopedics.
  • Krishnan V; Orthopedics.
  • Bhat M; Department of Clinical Genetics, Centre for Human Genetics, Bangalore.
  • Mohandas Nair K; Department of Pediatrics, Government Medical College, Kozhikode.
  • Radhakrishnan N; Ophthalmology.
  • Kappanayil M; Pediatric Cardiology, Amrita Institute of Medical Sciences and Research Center, Kerala.
  • Sheth JJ; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, Ahmedabad, India.
  • Alves S; Research and Development Unit, Human Genetics Department, National Health Institute Dr. Ricardo Jorge, Porto, Portugal.
  • Coutinho F; Research and Development Unit, Human Genetics Department, National Health Institute Dr. Ricardo Jorge, Porto, Portugal.
  • Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina.
  • Pauli RM; University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
  • Unger S; Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.
  • Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.
  • Leroy JG; Greenwood Genetic Center, Greenwood, South Carolina.
  • Cathey SS; Greenwood Genetic Center, Greenwood, South Carolina.
Clin Dysmorphol ; 28(1): 7-16, 2019 Jan.
Article em En | MEDLINE | ID: mdl-30507725
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucolipidoses Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Dysmorphol Assunto da revista: TERATOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucolipidoses Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Dysmorphol Assunto da revista: TERATOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Reino Unido