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Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Alghamdi, Malak; Bashiri, Fahad A; Abdelhakim, Marwa; Adly, Nouran; Jamjoom, Dima Z; Sumaily, Khalid M; Alghanem, Bandar; Arold, Stefan T.
Afiliação
  • Alghamdi M; Medical Genetics Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Bashiri FA; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.
  • Abdelhakim M; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.
  • Adly N; Neurology division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Jamjoom DZ; Computer, Electrical and Mathematical Science and Engineering Division (CEMSE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
  • Sumaily KM; College of Medicine Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Alghanem B; Department of Radiology and Medical Imaging, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Arold ST; Clinical Biochemistry Unit, Department of Laboratory Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Clin Genet ; 99(1): 99-110, 2021 01.
Article em En | MEDLINE | ID: mdl-32888189
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Piridoxaminafosfato Oxidase / Convulsões / Encefalopatias Metabólicas / Hipóxia-Isquemia Encefálica / Epilepsia / Doenças Metabólicas Tipo de estudo: Screening_studies / Systematic_reviews Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Piridoxaminafosfato Oxidase / Convulsões / Encefalopatias Metabólicas / Hipóxia-Isquemia Encefálica / Epilepsia / Doenças Metabólicas Tipo de estudo: Screening_studies / Systematic_reviews Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Arábia Saudita