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1 . Academic Journal
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient
저자
by
Corona-Rivera, Jorge Román
;
Martínez-Duncker, Iván
;
Morava, Eva
;
Ranatunga, Wasantha
;
Salinas-Marin, Roberta
, et al.
소스
In
Molecular Genetics and Metabolism
May 2024 142(1)
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7 . Academic Journal
Could distal variants in ALG13 lead to atypical clinical presentation?
저자
by
Accogli, Andrea
;
Radenkovic, Silvia
;
Ranatunga, Wasantha
;
Ligezka, Anna N.
;
Rivière, Jean-Baptiste
, et al.
소스
In
European Journal of Medical Genetics
April 2022 65(4)
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7 . Academic Journal
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc- Man2-GlcNAc2) as a specific diagnostic biomarker.
저자
by
Duncker, Ivan Martínez
;
Mata-Salgado, Denisse
;
Shammas, Ibrahim
;
Ranatunga, Wasantha
;
Daniel, Earnest James Paul
, et al.
소스
Frontiers in Genetics; 2024, p1-8, 8p
Web of Science
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7 . Academic Journal
Normal transferrin glycosylation does not rule out severe ALG1 deficiency.
저자
by
Bosnyak, Inez
;
Sadek, Mustafa
;
Ranatunga, Wasantha
;
Kozicz, Tamas
;
Morava, Eva
.
소스
Journal of Inherited Metabolic Disease Reports; May2024, Vol. 65 Issue 3, p135-143, 9p
Open Access (Wiley)
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7 . Academic Journal
P341: Identification of novel variants and phenotypic expansion in OGT-CDG
저자
by
Verheijen, Jan
;
Vanhye, Lotte
;
Shaikh, Ayesha Niaz
;
Radenkovic, Silvia
;
Ranatunga, Wasantha
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
저자
by
Kárteszi, Judit
;
Ziegler, Alban
;
Tihanyi, Mariann
;
Elmont, Beatrix
;
Zhang, Yuebo
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2023, Vol. 191 Issue 9, p2428-2432, 5p
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7 . Academic Journal
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.
저자
by
Ligezka, Anna N.
;
Budhraja, Rohit
;
Nishiyama, Yurika
;
Fiesel, Fabienne C.
;
Preston, Graeme
, et al.
소스
Genes
. Aug2023, Vol. 14 Issue 8, p1585. 20p.
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7 . Academic Journal
N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts.
저자
by
Budhraja, Rohit
;
Saraswat, Mayank
;
De Graef, Diederik
;
Ranatunga, Wasantha
;
Ramarajan, Madan G.
, et al.
소스
Journal of Inherited Metabolic Disease; Jan2023, Vol. 46 Issue 1, p76-91, 16p
Web of Science
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7 . Academic Journal
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.
저자
by
Muylle, Ewout
;
Jiang, Huafang
;
Johnsen, Christin
;
Byeon, Seul Kee
;
Ranatunga, Wasantha
, et al.
소스
Journal of Inherited Metabolic Disease; Nov2022, Vol. 45 Issue 6, p1039-1047, 9p
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7 . Academic Journal
Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications.
저자
by
Ligezka, Anna N.
;
Radenkovic, Silvia
;
Saraswat, Mayank
;
Garapati, Kishore
;
Ranatunga, Wasantha
, et al.
소스
Annals of Neurology
. Dec2021, Vol. 90 Issue 6, p887-900. 14p.
Full Text (Wiley)
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