How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
SB Wortmann, MM Oud, M Alders… - Journal of Inherited …, 2022 - Wiley Online Library
Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …
created tremendous improvement in achieving an accurate and timely molecular diagnosis …
Impact of endocrine disruptors upon non-genetic inheritance
D Montjean, AS Neyroud, MG Yefimova… - International Journal of …, 2022 - mdpi.com
Similar to environmental factors, EDCs (endocrine-disrupting chemicals) can influence gene
expression without modifying the DNA sequence. It is commonly accepted that the …
expression without modifying the DNA sequence. It is commonly accepted that the …
Causes and consequences of impaired methionine synthase activity in acquired and inherited disorders of vitamin B12 metabolism
JL Guéant, RM Guéant-Rodriguez… - Critical reviews in …, 2022 - Taylor & Francis
Abstract Methyl-Cobalamin (Cbl) derives from dietary vitamin B12 and acts as a cofactor of
methionine synthase (MS) in mammals. MS encoded by MTR catalyzes the remethylation of …
methionine synthase (MS) in mammals. MS encoded by MTR catalyzes the remethylation of …
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
S Kalantari, B Brezzi, V Bracciamà, A Barreca… - Orphanet Journal of …, 2022 - Springer
Background Methylmalonic aciduria and homocystinuria, CblC type (OMIM# 277400) is the
most common disorder of cobalamin intracellular metabolism, an autosomal recessive …
most common disorder of cobalamin intracellular metabolism, an autosomal recessive …
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis
A Wiedemann, A Oussalah, N Lamireau, M Theron… - Cell Reports …, 2022 - cell.com
Inherited disorders of B 12 metabolism produce a broad spectrum of manifestations, with
limited knowledge of the influence of age and the function of related genes. We report a …
limited knowledge of the influence of age and the function of related genes. We report a …
Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation?
R Elangovan, J Baruteau - Frontiers in Pharmacology, 2022 - frontiersin.org
Vitamin B12 or cobalamin deficiency is a commonly encountered clinical scenario and most
clinicians will have familiarity prescribing Vitamin B12 to treat their patients. Despite the high …
clinicians will have familiarity prescribing Vitamin B12 to treat their patients. Despite the high …
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study
The emergence of next-generation sequencing enabled a cost-effective and straightforward
diagnostic approach to genetic disorders using clinical exome sequencing (CES) panels …
diagnostic approach to genetic disorders using clinical exome sequencing (CES) panels …
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment
Z Chen, H Dong, Y Liu, R He, J Song, Y Jin… - Orphanet Journal of …, 2022 - Springer
Background cblC deficiency is the most common type of methylmalonic aciduria in China.
Late-onset patients present with various non-specific symptoms and are usually …
Late-onset patients present with various non-specific symptoms and are usually …
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
Background epi-cblC is a recently discovered inherited disorder of intracellular vitamin B12
metabolism associating hematological, neurological, and cardiometabolic outcomes. It is …
metabolism associating hematological, neurological, and cardiometabolic outcomes. It is …
Intracellular processing of vitamin B12 by MMACHC (CblC)
L Hannibal, DW Jacobsen - Vitamins and hormones, 2022 - Elsevier
Abstract Vitamin B 12 (cobalamin, Cbl, B 12) is a water-soluble micronutrient synthesized
exclusively by a group of microorganisms. Human beings are unable to make B 12 and thus …
exclusively by a group of microorganisms. Human beings are unable to make B 12 and thus …