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  • 1-10 ل  34 نتائج ل ""Congenital disorder""

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Collection : Sciencedirect (Elsevier - Open Access Articles Via Crossref)
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Academic Journal

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia

  • Source: Molecular Genetics and Metabolism Reports ; volume 41, page 101162 ; ISSN 2214-4269

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Academic Journal

Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition

  • Source: Molecular Genetics and Metabolism Reports ; volume 41, page 101145 ; ISSN 2214-4269

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Academic Journal

Establishment of a human induced pluripotent stem cell line（SDQLCHi059-A）from a patient with congenital disorder of glycosylation carrying heterozygous mutation in MPI gene

  • Source: Stem Cell Research ; volume 77, page 103381 ; ISSN 1873-5061

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Academic Journal

PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation: Bella-Noah syndrome

  • Source: Heliyon ; volume 10, issue 6, page e27438 ; ISSN 2405-8440

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Academic Journal

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation

  • Source: Molecular Genetics and Metabolism Reports ; volume 39, page 101067 ; ISSN 2214-4269

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Academic Journal

SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 20 affected individuals including the first adult patient

  • Source: Molecular Genetics and Metabolism ; page 108477 ; ISSN 1096-7192

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Academic Journal

P327: Congenital disorder of glycosylation type IIa with a novel phenotype of bilateral congenital glaucoma

  • Source: Genetics in Medicine Open ; volume 2, page 101221 ; ISSN 2949-7744

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Academic Journal

TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability

  • Source: Genetics in Medicine ; volume 24, issue 4, page 894-904 ; ISSN 1098-3600

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Academic Journal

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

  • Source: The American Journal of Human Genetics ; volume 108, issue 11, page 2130-2144 ; ISSN 0002-9297

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Academic Journal

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

  • Source: The American Journal of Human Genetics ; volume 108, issue 6, page 1040-1052 ; ISSN 0002-9297

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  • 1-10 ل  34 نتائج ل ""Congenital disorder""