Your browser doesn't support javascript.
loading
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Staretz-Chacham, Orna; Schlotawa, Lars; Wormser, Ohad; Golan-Tripto, Inbal; Birk, Ohad S; Ferreira, Carlos R; Dierks, Thomas; Radhakrishnan, Karthikeyan.
Afiliación
  • Staretz-Chacham O; Metabolic Clinic, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Schlotawa L; Neonatlogy 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.
  • Golan-Tripto I; Department of Paediatrics and Adolescent Medicine, University Medical Center, Goettingen, Germany.
  • Birk OS; 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.
  • Ferreira CR; Shraga Segal Department of Microbiology, Immunology and Genetics, Ben Gurion University of the Negev, Beer-Sheva, Israel.
  • Dierks T; Division of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Radhakrishnan K; 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.
Mol Genet Genomic Med ; 8(9): e1167, 2020 09.
Article en En | MEDLINE | ID: mdl-32048457
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Mutación Missense / Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro / Enfermedad por Deficiencia de Múltiples Sulfatasas Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: Israel
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Mutación Missense / Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro / Enfermedad por Deficiencia de Múltiples Sulfatasas Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: Israel