[HTML][HTML] Isolated methylmalonic acidemia
I Manoli, JL Sloan, CP Venditti - 2016 - europepmc.org
For this GeneReview, the term" isolated methylmalonic acidemia" refers to a group of inborn
errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in …
errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in …
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)
Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr.
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …
Altered vitamin B12 metabolism in the central nervous system is associated with the modification of ribosomal gene expression: new insights from comparative RNA …
Recent studies have confirmed the direct role of vitamin B12 (VitB12) in the central nervous
system (CNS) homeostasis; nevertheless, the detailed mechanisms are poorly understood …
system (CNS) homeostasis; nevertheless, the detailed mechanisms are poorly understood …
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene
F Pangilinan, D Watkins, D Bernard… - American Journal of …, 2022 - Wiley Online Library
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 …
receptor, CD320, is unknown. This allele is annotated in ClinVar as likely benign …
Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia
S Nikpour, P Eshraghi, E Ghayoor… - International Journal of …, 2023 - ijp.mums.ac.ir
Transcobalamin deficiency as a rare autosomal recessive disorder and methylmalonic
acidemia is an autosomal recessive disorder of amino acid metabolism. Based on the …
acidemia is an autosomal recessive disorder of amino acid metabolism. Based on the …