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Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation

• Source: Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation and

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Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation

• Authors : David R. Deyle, Principal Investigator

• Source: Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation

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Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

• Authors : National Institute of Neurological Disorders and Stroke (NINDS); Seattle Children's Hospital; Children's Hospital of Philadelphia ...

• Source: Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

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Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

• Authors : Granjo P; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.

Subjects: Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/diagnosis ; Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/genetics; Humans

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 01; Vol. 19 (1), pp. 407. Date of Electronic Publication: 2024 Nov 01.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.

• Authors : Fan S; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China.; Wu H

Subjects: Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/genetics ; Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/diagnosis; Humans

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2422.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).

• Authors : Poejo J; CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, Universidade NOVA de Lisboa, 2819-516, Caparica, Portugal.; Gomes AI

Subjects: Resilience, Psychological* ; Congenital Disorders of Glycosylation* ; Distal Myopathies*Distal myopathy, Nonaka type

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 04; Vol. 19 (1), pp. 98. Date of Electronic Publication: 2024 Mar 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.

• Authors : Sakson R; Zentrum für Molekulare Biologie der Universität Heidelberg (ZMBH), DKFZ-ZMBH Alliance, 69120 Heidelberg, Germany.; Heidelberg Biosciences International Graduate School (HBIGS), Heidelberg University, 69120 Heidelberg, Germany.

Subjects: Glycosyltransferases*/Glycosyltransferases*/Glycosyltransferases*/genetics ; Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/genetics; Humans

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 18; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 18.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

• Authors : Dang, An N; Chang, Irene J; Jiang, Xutian

Subjects: Biochemistry and Cell Biology; Biological Sciences; Clinical Research

• Source: Journal of Inherited Metabolic Disease. 46(2)

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Congenital disorders of glycosylation (CDG): state of the art in 2022.

• Authors : Francisco R; CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, Universidade NOVA de Lisboa, 2819-516, Caparica, Portugal.; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, 2819-516, Caparica, Portugal.

Subjects: Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/genetics ; Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/metabolism; Humans

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 19; Vol. 18 (1), pp. 329. Date of Electronic Publication: 2023 Oct 19.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.

• Authors : Kas SM; Molecular Oncology Group, Cancer Research UK Manchester Institute, The University of Manchester, Wilmslow Road, Manchester, M20 4BX, UK. .; Mundra PA

Subjects: Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/diagnosis ; Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/genetics; Humans

• Source: Scientific reports [Sci Rep] 2023 Oct 17; Vol. 13 (1), pp. 17648. Date of Electronic Publication: 2023 Oct 17.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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