Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.

Journal of inherited metabolic disease - 1 Jul 2021

Alsharhan Hind, He Miao, Edmondson Andrew C, Daniel Earnest J P, Chen Jie, Donald Tyhiesia, Bakhtiari Somayeh, Amor David J, Jones Elizabeth A, Vassallo Grace, Vincent Marie, Cogné Benjamin, Deb Wallid, Werners Arend H, Jin Sheng C, Bilguvar Kaya, Christodoulou John, Webster Richard I, Yearwood Katherine R, Ng Bobby G, Freeze Hudson H, Kruer Michael C, Li Dong, Raymond Kimiyo M, Bhoj Elizabeth J, Sobering Andrew K

Abstract excerpt

Pathogenic variants in ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) cause an X-linked congenital disorder of glycosylation (ALG13-CDG) where individuals have variable clinical phenotypes that include developmental delay, intellectual disability, infantile spasms, and epileptic encephalopathy. Girls with a recurrent de novo c.3013C>T; p.(Asn107Ser) variant have normal transferrin glycosylation. Using...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Disorders of Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Glycosylation

Share to Intellectual Disability

Share to N-Acetylglucosaminyltransferases

Share to Phenotype

Share to Transferrin

Source

Open in PubMed Open full text

Identifiers

PMID: 33734437
DOI: 10.1002/jimd.12378
PMCID: PMC8720508

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.PMID 33734437Read ↗

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.Semantic proximity Read ↗

X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.Semantic proximity Read ↗

Identification of two novel variants in ALG11 causing congenital disorder of glycosylation.Semantic proximity Read ↗

Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.Semantic proximity Read ↗

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.Semantic proximity Read ↗

Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.Semantic proximity Read ↗

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.Semantic proximity Read ↗

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.Semantic proximity Read ↗

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.Semantic proximity Read ↗

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.Semantic proximity Read ↗

Expanded prenatal phenotype of ALG12-associated congenital disorder of glycosylation including bilateral multicystic kidneys.Semantic proximity Read ↗

DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.