Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
M Huemer, D Diodato, B Schwahn, M Schiff… - Journal of inherited …, 2017 - Springer
Background Remethylation defects are rare inherited disorders in which impaired
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …
Metabolism of sulfur-containing amino acids.
MH Stipanuk - Annual review of nutrition, 1986 - europepmc.org
Met metabolism occurs primarily by activation of Met to AdoMet and further metabolism of
AdoMet by either the transmethylation-transsulfuration pathway or the polyamine …
AdoMet by either the transmethylation-transsulfuration pathway or the polyamine …
Disorders of propionate and methylmalonate metabolism
RA Chalmers, AM Lawson, RA Chalmers… - Organic Acids in Man …, 1982 - Springer
The final unique stage in the metabolism of L-isoleucine involves the cleavage of 2-
methylacetoacetyl-CoA to acetyl-CoA and propionyl-CoA (Section 10.4). The propionyl-CoA …
methylacetoacetyl-CoA to acetyl-CoA and propionyl-CoA (Section 10.4). The propionyl-CoA …
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management
N Carrillo-Carrasco, RJ Chandler… - Journal of inherited …, 2012 - Springer
Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of
intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is …
intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is …
The two faces of cyanide: an environmental toxin and a potential novel mammalian gasotransmitter
Cyanide is traditionally viewed as a cytotoxic agent, with its primary mode of action being the
inhibition of mitochondrial Complex IV (cytochrome c oxidase). However, recent studies …
inhibition of mitochondrial Complex IV (cytochrome c oxidase). However, recent studies …
Clinical presentation and outcome in a series of 88 patients with the cblC defect
S Fischer, M Huemer, M Baumgartner… - Journal of inherited …, 2014 - Springer
The cblC defect is the most common inborn error of vitamin B12 metabolism. Despite
therapeutic measures, the long-term outcome is often unsatisfactory. This retrospective …
therapeutic measures, the long-term outcome is often unsatisfactory. This retrospective …
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)
DS Rosenblatt, AL Aspler, MI Shevell… - Journal of inherited …, 1997 - Springer
The clbC form of methylmalonic acidaemia is a rare and poorly understood condition which
results from impaired biosynthesis of methylcobalamin and adenosylcobalamin. The …
results from impaired biosynthesis of methylcobalamin and adenosylcobalamin. The …
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
M Huemer, S Scholl-Bürgi, K Hadaya, I Kern… - Orphanet journal of rare …, 2014 - Springer
Background The cblC defect is a rare inborn error of intracellular cobalamin metabolism.
Biochemical hallmarks are elevated homocysteine and low methionine in plasma …
Biochemical hallmarks are elevated homocysteine and low methionine in plasma …
Cobalamin C defect: natural history, pathophysiology, and treatment
D Martinelli, F Deodato, C Dionisi-Vici - Journal of inherited metabolic …, 2011 - Springer
Abstract Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism
error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active …
error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active …
B-vitamins and fatty acids in the prevention and treatment of Alzheimer's disease and dementia: a systematic review
AD Dangour, PJ Whitehouse, K Rafferty… - Journal of …, 2010 - content.iospress.com
The increasing worldwide prevalence of dementia is a major public health concern. Findings
from some epidemiological studies suggest that diet and nutrition may be important …
from some epidemiological studies suggest that diet and nutrition may be important …