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U-IMD: the first Unified European registry for inherited metabolic diseases.
Opladen, Thomas; Gleich, Florian; Kozich, Viktor; Scarpa, Maurizio; Martinelli, Diego; Schaefer, Franz; Jeltsch, Kathrin; Juliá-Palacios, Natalia; García-Cazorla, Ángels; Dionisi-Vici, Carlo; Kölker, Stefan.
Afiliação
  • Opladen T; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, Centre for Child and Adolescent Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. thomas.opladen@med.uni-heidelberg.de.
  • Gleich F; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, Centre for Child and Adolescent Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
  • Kozich V; Department of Pediatrics and Inherited Metabolic Disorders, Charles University - First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.
  • Martinelli D; U.O.C. di Patologia Metabolica, Dipartimento di Medicina Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Schaefer F; Division of Pediatric Nephrology, Department of General Pediatrics, Centre for Child and Adolescent Medicine, Heidelberg, Germany.
  • Jeltsch K; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, Centre for Child and Adolescent Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
  • Juliá-Palacios N; Inborn Errors of Metabolism Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, and CIBERER-ISCIII, Barcelona, Spain.
  • García-Cazorla Á; Inborn Errors of Metabolism Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, and CIBERER-ISCIII, Barcelona, Spain.
  • Dionisi-Vici C; U.O.C. di Patologia Metabolica, Dipartimento di Medicina Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Kölker S; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, Centre for Child and Adolescent Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Orphanet J Rare Dis ; 16(1): 95, 2021 02 18.
Article em En | MEDLINE | ID: mdl-33602304
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Metabólicas Tipo de estudo: Guideline Limite: Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Metabólicas Tipo de estudo: Guideline Limite: Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido