Hudson H Freeze
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Explore the profile of Hudson H Freeze including associated specialties, affiliations and a list of published articles.
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196
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6129
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Recent Articles
1.
Lai D, Sosicka P, Williams D, Bowyer M, Ressler A, Kohrt S, et al.
bioRxiv
. 2025 Jan;
PMID: 39763953
encodes a UDP-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic variants have been identified in congenital disorders of glycosylation and somatic variants have...
2.
Shah R, A Eklund E, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, et al.
Mol Genet Metab
. 2024 May;
142(2):108472.
PMID: 38703411
ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. Affected individuals present with a predominantly...
3.
Ng B, Freeze H, Himmelreich N, Blau N, Ferreira C
Mol Genet Metab
. 2024 Apr;
142(1):108476.
PMID: 38653092
We have identified 200 congenital disorders of glycosylation (CDG) caused by 189 different gene defects and have proposed a classification system for CDG based on the mode of action. This...
4.
Daniel E, Edmondson A, Argon Y, Alsharhan H, Lam C, Freeze H, et al.
J Inherit Metab Dis
. 2024 Apr;
47(4):766-777.
PMID: 38597022
ALG3-CDG is a rare congenital disorder of glycosylation (CDG) with a clinical phenotype that includes neurological manifestations, transaminitis, and frequent infections. The ALG3 enzyme catalyzes the first step of endoplasmic...
5.
Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva G, et al.
JCI Insight
. 2024 Apr;
9(7).
PMID: 38587076
BACKGROUNDDiagnosis of PMM2-CDG, the most common congenital disorder of glycosylation (CDG), relies on measuring carbohydrate-deficient transferrin (CDT) and genetic testing. CDT tests have false negatives and may normalize with age....
6.
Duan R, Marafi D, Xia Z, Ng B, Maroofian R, Sumya F, et al.
J Inherit Metab Dis
. 2023 Sep;
46(6):1195-1205.
PMID: 37711075
Biallelic variants in genes for seven out of eight subunits of the conserved oligomeric Golgi complex (COG) are known to cause recessive congenital disorders of glycosylation (CDG) with variable clinical...
7.
Del Cano-Ochoa F, Ng B, Rubio-Del-Campo A, Mahajan S, Wilson M, Vilar M, et al.
J Inherit Metab Dis
. 2023 Aug;
46(6):1170-1185.
PMID: 37540500
CAD is a large, 2225 amino acid multienzymatic protein required for de novo pyrimidine biosynthesis. Pathological CAD variants cause a developmental and epileptic encephalopathy which is highly responsive to uridine...
8.
Harada Y, Mizote Y, Suzuki T, Hirayama A, Ikeda S, Nishida M, et al.
Elife
. 2023 Jul;
12.
PMID: 37461317
Mannose has anticancer activity that inhibits cell proliferation and enhances the efficacy of chemotherapy. How mannose exerts its anticancer activity, however, remains poorly understood. Here, using genetically engineered human cancer...
9.
Dang Do A, Chang I, Jiang X, Wolfe L, Ng B, Lam C, et al.
J Inherit Metab Dis
. 2023 Jan;
46(2):326-334.
PMID: 36719165
Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multisystemic manifestations. Plasma...
10.
Alharbi H, Daniel E, Thies J, Chang I, Goldner D, Ng B, et al.
J Inherit Metab Dis
. 2023 Jan;
46(2):300-312.
PMID: 36651831
ATP6AP1-CDG is an X-linked disorder typically characterized by hepatopathy, immunodeficiency, and an abnormal type II transferrin glycosylation pattern. Here, we present 11 new patients and clinical updates with biochemical characterization...