CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase...

[PDF] frontiersin.org

Functional and pathological roles of AHCY

P Vizán, L Di Croce, S Aranda - Frontiers in Cell and Developmental …, 2021 - frontiersin.org
Adenosylhomocysteinase (AHCY) is a unique enzyme and one of the most conserved
proteins in living organisms. AHCY catalyzes the reversible break of S …
被引用次数：68 相关文章 所有 12 个版本

Optical Coherence Tomography Feature of Retinoschisis in CRB1-Associated Maculopathy

JS Bellingrath, J Birtel, IH Yusuf… - JAMA …, 2024 - jamanetwork.com
CRB1-associated macular dystrophy (CAMD) presents initially with macular retinoschisis
and in more advanced disease with degeneration of the macular outer retina. 1-5 CAMD …
被引用次数：2 相关文章 所有 4 个版本
[PDF] arvojournals.org

Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials

Y Jin, S Li, Z Jiang, L Sun, L Huang… - … & Visual Science, 2024 - iovs.arvojournals.org
Purpose: The purpose of this study was to investigate the genotypic and phenotypic
characteristics of CRB1-associated early onset retinal dystrophy (CRB1-eoRD) and retinal …
被引用次数：2 相关文章 所有 5 个版本

Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene

K Ciki, C Alavanda - Molecular Syndromology, 2024 - karger.com
Introduction: S-adenosylhomocysteine hydrolase (SAHH) is one of the enzymes involved in
converting methionine to homocysteine with transmethylation processes. Methyltransfer …
相关文章 所有 3 个版本

Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene

K Ciki, C Alavanda - Molecular Syndromology, 2024 - karger.com
Introduction: S-adenosylhomocysteine hydrolase (SAHH) is one of the enzymes involved in
converting methionine to homocysteine with transmethylation processes. Methyltransfer …
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