Carol Van Ryzin
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Explore the profile of Carol Van Ryzin including associated specialties, affiliations and a list of published articles.
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28
Citations
521
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Recent Articles
1.
Shchelochkov O, Davies H, Mohney R, Hatch A, Birch O, Ferry S, et al.
Mol Genet Metab
. 2025 Jan;
144(3):109005.
PMID: 39787887
Background: Impaired oxidation of branched chain amino acids may give rise to volatile organic compounds (VOCs). We hypothesized that VOCs will be present in exhaled breath of participants with propionic...
2.
Merke D, Mallappa A, Parker M, Sukin C, Kulkarni S, Keil M, et al.
J Clin Endocrinol Metab
. 2024 Dec;
PMID: 39672600
Context: Height outcome in patients with classic congenital adrenal hyperplasia (CAH) is suboptimal due to glucocorticoid and androgen excess. Methods: In an open, randomized, controlled trial, children with classic CAH...
3.
Liberton D, Almpani K, Mishra R, Bassim C, Van Ryzin C, The Moebius Syndrome Research Consortium , et al.
Int J Environ Res Public Health
. 2024 May;
21(5).
PMID: 38791829
Congenital facial weakness (CFW) encompasses a heterogenous set of rare disorders presenting with decreased facial movement from birth, secondary to impaired function of the facial musculature. The aim of the...
4.
Shchelochkov O, Farmer C, Chlebowski C, Adedipe D, Ferry S, Manoli I, et al.
Mol Psychiatry
. 2024 Jan;
29(4):974-981.
PMID: 38200289
Propionic acidemia (PA) is an autosomal recessive condition (OMIM #606054), wherein pathogenic variants in PCCA and PCCB impair the activity of propionyl-CoA carboxylase. PA is associated with neurodevelopmental disorders, including...
5.
Tenney A, Di Gioia S, Webb B, Chan W, de Boer E, Garnai S, et al.
Nat Genet
. 2023 Jun;
55(7):1149-1163.
PMID: 37386251
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial...
6.
Manoli I, Gebremariam A, McCoy S, Pass A, Gagne J, Hall C, et al.
J Inherit Metab Dis
. 2023 May;
46(4):554-572.
PMID: 37243446
Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor,...
7.
Pangilinan F, Watkins D, Bernard D, Chen Y, Dong N, Wu Q, et al.
Am J Med Genet A
. 2022 Feb;
188(4):1124-1141.
PMID: 35107211
The biological and clinical significance of the p.E88del variant in the transcobalamin receptor, CD320, is unknown. This allele is annotated in ClinVar as likely benign, pathogenic, and of uncertain significance....
8.
Whitman M, Barry B, Robson C, Facio F, Van Ryzin C, Chan W, et al.
Hum Genet
. 2021 Oct;
140(12):1709-1731.
PMID: 34652576
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations....
9.
Shchelochkov O, Manoli I, Juneau P, Sloan J, Ferry S, Myles J, et al.
Genet Med
. 2021 May;
23(8):1534-1542.
PMID: 34007002
Purpose: To conduct a proof-of-principle study to identify subtypes of propionic acidemia (PA) and associated biomarkers. Methods: Data from a clinically diverse PA patient population ( https://clinicaltrials.gov/ct2/show/NCT02890342 ) were used...
10.
Manoli I, Pass A, Harrington E, Sloan J, Gagne J, McCoy S, et al.
Genet Med
. 2021 May;
23(11):2233.
PMID: 33972722
No abstract available.