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Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.
Messina, Martina; Manea, Emanuela; Cullup, Thomas; Tuschl, Karin; Batzios, Spyros.
Afiliação
  • Messina M; Metabolic Medicine Department Great Ormond Street Hospital for Children London UK.
  • Manea E; Metabolic Medicine Department Great Ormond Street Hospital for Children London UK.
  • Cullup T; North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children London UK.
  • Tuschl K; Metabolic Medicine Department Great Ormond Street Hospital for Children London UK.
  • Batzios S; University College London Great Ormond Street Institute for Children London UK.
JIMD Rep ; 64(1): 42-52, 2023 Jan.
Article em En | MEDLINE | ID: mdl-36636587
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2023 Tipo de documento: Article