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Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.
Al-Dewik, Nader; Ali, Alaa; Mahmoud, Yassmin; Shahbeck, Noora; Ali, Rehab; Mahmoud, Laila; Al-Mureikhi, Mariam; Al-Mesaifri, Fatma; Musa, Sara; El-Akouri, Karen; Almulla, Mariam; Al Saadi, Reem; Nasrallah, Gheyath K; Samara, Muthanna; Abdoh, Ghassan; Rifai, Hilal Al; Häberle, Johannes; Thöny, Beat; Kruger, Warren; Blom, Henk J; Ben-Omran, Tawfeg.
Afiliação
  • Al-Dewik N; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Ali A; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar.
  • Mahmoud Y; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Shahbeck N; Children Rehabilitation Out Patient Clinics, Rumaillah Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Ali R; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Mahmoud L; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Al-Mureikhi M; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Al-Mesaifri F; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Musa S; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • El-Akouri K; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Almulla M; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Al Saadi R; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Nasrallah GK; Department of Dietetics and Nutrition, Hamad Medical Corporation, Doha, Qatar.
  • Samara M; Department of Biomedical Sciences, Biomedical Research Center, College of Health Sciences, QU health, Qatar University, Doha, Qatar.
  • Abdoh G; Department of Psychology, Kingston University London, London, UK.
  • Rifai HA; Department of Pediatrics and Neonatology, Newborn Screening Unit, Hamad Medical Corporation, Doha, Qatar.
  • Häberle J; Department of Pediatrics and Neonatology, Newborn Screening Unit, Hamad Medical Corporation, Doha, Qatar.
  • Thöny B; Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.
  • Kruger W; Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.
  • Blom HJ; Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
  • Ben-Omran T; Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg, Germany.
J Inherit Metab Dis ; 42(5): 818-830, 2019 09.
Article em En | MEDLINE | ID: mdl-30968424
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cistationina beta-Sintase / Homocistinúria Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Qatar
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cistationina beta-Sintase / Homocistinúria Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Qatar