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Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan, Hind; Ng, Bobby G; Daniel, Earnest James Paul; Friedman, Jennifer; Pivnick, Eniko K; Al-Hashem, Amal; Faqeih, Eissa Ali; Liu, Pengfei; Engelhardt, Nicole M; Keller, Kierstin N; Chen, Jie; Mazzeo, Pamela A; Rosenfeld, Jill A; Bamshad, Michael J; Nickerson, Deborah A; Raymond, Kimiyo M; Freeze, Hudson H; He, Miao; Edmondson, Andrew C; Lam, Christina.
Afiliación
  • Alsharhan H; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Ng BG; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Daniel EJP; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
  • Friedman J; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Pivnick EK; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Al-Hashem A; Division of Neurosciences and Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, California, USA.
  • Faqeih EA; Department of Pediatrics, Division of Medical Genetics, University of Tennessee Health Science Center (UTHSC), Memphis, Tennessee, USA.
  • Liu P; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Engelhardt NM; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Keller KN; Section of Medical Genetics, Children's Specialist Hospital King Fahad Medical City, Riyadh, Saudi Arabia.
  • Chen J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Mazzeo PA; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Rosenfeld JA; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Bamshad MJ; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Nickerson DA; Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Freeze HH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • He M; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Edmondson AC; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
  • Lam C; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
J Inherit Metab Dis ; 44(4): 987-1000, 2021 07.
Article en En | MEDLINE | ID: mdl-33583022
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Manosiltransferasas Límite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Manosiltransferasas Límite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos