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Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Del Caño-Ochoa, Francisco; Ng, Bobby G; Rubio-Del-Campo, Antonio; Mahajan, Sonal; Wilson, Matthew P; Vilar, Marçal; Rymen, Daisy; Sánchez-Pintos, Paula; Kenny, Joanna; Ley Martos, Myriam; Campos, Teresa; Wortmann, Saskia B; Freeze, Hudson H; Ramón-Maiques, Santiago.
Afiliação
  • Del Caño-Ochoa F; Structure of Macromolecular Targets Unit, Instituto de Biomedicina de Valencia (IBV), CSIC, Valencia, Spain.
  • Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Rubio-Del-Campo A; Structure of Macromolecular Targets Unit, Instituto de Biomedicina de Valencia (IBV), CSIC, Valencia, Spain.
  • Mahajan S; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Wilson MP; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium.
  • Vilar M; Molecular Basis of Neurodegeneration Unit, Instituto de Biomedicina de Valencia (IBV), CSIC, Valencia, Spain.
  • Rymen D; Department of Pediatrics, Center for Metabolic Diseases, University Hospitals of Leuven, Leuven, Belgium.
  • Sánchez-Pintos P; Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, C.S.U.R. de Enfermedades Metabólicas, MetabERN, Hospital Clínico Universitario de Santiago de Compostela, La Coruña, Spain.
  • Kenny J; Instituto de Investigación Sanitaria Santiago de Compostela (IDIS), La Coruña, Spain.
  • Ley Martos M; Children's Health Ireland at Crumlin, Dublin, Ireland.
  • Campos T; Pediatric Neurology Unit, Hospital Universitario Puerta del Mar, Cádiz, Spain.
  • Wortmann SB; Reference Center of Inherited Metabolic Diseases of Hospital de São João, Porto, Portugal.
  • Freeze HH; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Ramón-Maiques S; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.
J Inherit Metab Dis ; 46(6): 1170-1185, 2023 11.
Article em En | MEDLINE | ID: mdl-37540500
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Di-Hidro-Orotase Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Di-Hidro-Orotase Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha