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NGLY1 deficiency: Novel variants and literature review.
Kariminejad, Ariana; Shakiba, Marjan; Shams, Mehrvash; Namiranian, Parva; Eghbali, Maryam; Talebi, Said; Makvand, Mina; Jaeken, Jaak; Najmabadi, Hossein; Hennekam, Raoul C.
Afiliação
  • Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran. Electronic address: arianakariminejad@yahoo.com.
  • Shakiba M; Pediatric Endocrinology and Metabolism Department, Mofid Children Hospital, Shahid Beheshti, University of Medical Science, Tehran, Iran.
  • Shams M; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Namiranian P; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Eghbali M; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: eghbalim@almnus.tums.a.cir.
  • Talebi S; Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran. Electronic address: talebi.s@iums.ac.ir.
  • Makvand M; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Jaeken J; Department of Development and Regeneration, Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.
  • Najmabadi H; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Hennekam RC; Department of Pediatrics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Eur J Med Genet ; 64(3): 104146, 2021 Mar.
Article em En | MEDLINE | ID: mdl-33497766
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase / Mutação Tipo de estudo: Systematic_reviews Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de publicação: Holanda
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase / Mutação Tipo de estudo: Systematic_reviews Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de publicação: Holanda