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  • 1-10 ل  328 نتائج ل ""Congenital disorder""

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Publisher : wiley
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Academic Journal

Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model

Subjects: congenital disorder of glycosylation; CRISPR/Cas9; FCSK

  • Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)

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Academic Journal

Pediatric Anesthetic Management of a Patient With an ALG‐13 Gene Mutation, a Rare Congenital Disorder of Glycosylation

Subjects: ALG‐13 mutation; congenital disorders of glycosylation; malignant hyperthermia

  • Source: Clinical Case Reports, Vol 13, Iss 1, Pp n/a-n/a (2025)

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Academic Journal

A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review

Subjects: ALG1 gene; ALG1‐CDG; congenital disorder of glycosylation

  • Source: Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)

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Academic Journal

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia

Subjects: antithrombin deficiency; cerebral venous sinus thrombosis; coagulation disorder

  • Source: JIMD Reports, Vol 55, Iss 1, Pp 38-43 (2020)

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Academic Journal

Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype

Subjects: developmental delay; FCSK; Fucokinase

  • Source: Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)

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Academic Journal

NGLY1 deficiency—A rare congenital disorder of deglycosylation

Subjects: congenital disorders of deglycosylation; dyskinesia; global developmental delay

  • Source: JIMD Reports, Vol 53, Iss 1, Pp 2-9 (2020)

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Academic Journal

Renal dysplasia in Leonberger dogs - An emerging recessive congenital disorder?

Subjects: 590 Animals (Zoology); 630 Agriculture

  • Source: Letko, Anna; Gurtner, Corinne; Jagannathan, Vidhya; Drögemüller, Cord (2024). Renal dysplasia in Leonberger dogs - An emerging recessive congenital

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Academic Journal

Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation

Subjects: disorders of deglycosylation; methionine; NGLY1

  • Source: JIMD Reports, Vol 49, Iss 1, Pp 21-29 (2019)

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NGLY1 deficiency—A rare congenital disorder of deglycosylation

Subjects: Pediatrics; medicine.medical_specialty; Ataxia

  • Source: JIMD Reports, Vol 53, Iss 1, Pp 2-9 (2020)JIMD Reports

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Mutations in the translocon‐associated protein complex subunitSSR3cause a novel congenital disorder of glycosylation

Subjects: Male; Signal peptide; Glycosylation

  • Source: J Inherit Metab Dis

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  • 1-10 ل  328 نتائج ل ""Congenital disorder""