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B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.
Staretz-Chacham, Orna; Noyman, Iris; Wormser, Ohad; Abu Quider, Abed; Hazan, Guy; Morag, Iris; Hadar, Noam; Raymond, Kimiyo; Birk, Ohad S; Ferreira, Carlos R; Koifman, Arie.
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  • Staretz-Chacham O; Metabolic Clinic, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Noyman I; Neonatology Unit, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Wormser O; Division of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Abu Quider A; Division of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Hazan G; Pediatric Neurology Unit, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Morag I; Genetics Institute, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Hadar N; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
  • Raymond K; Division of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Birk OS; Division of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Ferreira CR; Department of Pediatrics, The Edmond and Lily Safra Children's Hospital at Chaim Sheba Medical Center, Sackler School of Medicine Tel Aviv University, Tel Aviv, Israel.
  • Koifman A; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
Clin Genet ; 97(6): 920-926, 2020 06.
Article en En | MEDLINE | ID: mdl-32157688
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Galactosiltransferasas / Discapacidad Intelectual / Síndrome Nefrótico Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: Israel
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Galactosiltransferasas / Discapacidad Intelectual / Síndrome Nefrótico Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: Israel