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Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?
Casey, Jillian P; Crushell, Ellen; Thompson, Kyle; Twomey, Eilish; He, Langping; Ennis, Sean; Philip, Roy K; Taylor, Robert W; King, Mary D; Lynch, Sally Ann.
Afiliação
  • Casey JP; Genetics Department, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • Crushell E; School of Medicine and Medical Sciences, UCD Academic Centre on Rare Diseases, University College Dublin, Belfield, Dublin 4, Ireland.
  • Thompson K; School of Medicine and Medical Sciences, UCD Academic Centre on Rare Diseases, University College Dublin, Belfield, Dublin 4, Ireland.
  • Twomey E; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • He L; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Ennis S; Radiology Department, Temple Street Children's University Hospital, Dublin 1, Ireland.
  • Philip RK; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Taylor RW; School of Medicine and Medical Sciences, UCD Academic Centre on Rare Diseases, University College Dublin, Belfield, Dublin 4, Ireland.
  • King MD; Division of Neonatology, Department of Paediatrics, University Maternity Hospital Limerick, Ennis Road, Limerick, Ireland.
  • Lynch SA; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
JIMD Rep ; 26: 13-9, 2016.
Article em En | MEDLINE | ID: mdl-26238252
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2016 Tipo de documento: Article