Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses
E Scalais, E Osterheld, C Geron, C Pierron… - JIMD …, 2019 - Wiley Online Library
Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or
X‐linked disorders. Parenteral hydroxocobalamin (P‐OHCbl) is the mainstay of therapy, but …
X‐linked disorders. Parenteral hydroxocobalamin (P‐OHCbl) is the mainstay of therapy, but …
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients
I De Biase, C Gherasim, SL La'ulu, A Asamoah… - Clinica Chimica …, 2020 - Elsevier
The homocystinurias, caused by defects of remethylation and cystathionine-beta-synthase
(CBS) deficiency, are characterized by elevated homocysteine and abnormal methionine …
(CBS) deficiency, are characterized by elevated homocysteine and abnormal methionine …
[HTML][HTML] Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia
Background The etiology of nephrotic syndrome can vary, with underlying metabolic
diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive …
diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive …
The Redox-Catalytic Properties of Cobalamins
YV Shatalin, VS Shubina, ME Solovieva, VS Akatov - Molecular Biology, 2023 - Springer
Vitamin B12, or cobalamin, is essential for normal body function and is used in the therapies
of different diseases. Vitamin B12 has anti-inflammatory and antioxidant properties that can …
of different diseases. Vitamin B12 has anti-inflammatory and antioxidant properties that can …
[HTML][HTML] Effects of high-flux hemodialysis combined with levocarnitine on vascular calcification, microinflammation, hepcidin, and malnutrition of elderly patients on …
XG Chi, Z Ma, WB Zhang, Q Cai… - Annals of Palliative …, 2021 - apm.amegroups.org
Background: This study was to investigate the effect of high-flux hemodialysis (HD)
combined with levocarnitine on vascular calcification, microinflammation, hepcidin, and …
combined with levocarnitine on vascular calcification, microinflammation, hepcidin, and …
[HTML][HTML] Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal …
YP Liu, RX He, ZH Chen, LL Kang, JQ Song… - Frontiers in …, 2023 - frontiersin.org
Background The most common disorder of the intracellular cobalamin metabolism pathway
is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a …
is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a …
[HTML][HTML] Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager
S Cheng, W Chen, M Zhao, X Xing, L Zhao… - Frontiers in …, 2022 - frontiersin.org
Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin
metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic …
metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic …
[HTML][HTML] When to measure plasma homocysteine and how to place it in context: The homocystinurias
M Huemer - Journal of mother and child, 2020 - sciendo.com
This review presents clinical patterns that should trigger homocysteine measurement in
blood, as well as the further diagnostic work-up focused on inborn errors of metabolism and …
blood, as well as the further diagnostic work-up focused on inborn errors of metabolism and …