Results 71 to 80 of about 10,319 (231)
Rapid healing of a patient with dramatic subacute combined degeneration of spinal cord: a case report [PDF]
, 2017 Background: Prevalence of cobalamin deficiency is high especially in older patients and an immediate therapy start is necessary to prevent irreversible neurological damages. Unfortunately, the diagnosis of cobalamin deficiency is difficult and at present,
Roessler, Florian C., Wolff, Stephanie
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The FEBS Journal, Volume 292, Issue 18, Page 4933-4954, September 2025.Cystathionine β‐synthase (CBS) is an essential enzyme involved in cysteine metabolism, where it combines homocysteine and serine to form cystathionine, the immediate precursor of cysteine. The R336C mutation, which has a high prevalence in Qatar and is associated with a severe form of the amino acid metabolism disorder homocystinuria, reduces CBS ...
Carolina Conter +10 more
wiley +1 more source
Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism?
Biology, 2015 An association between sulfur amino acids (methionine, cysteine, homocysteine and taurine) and lipid metabolism has been described in several experimental and population-based studies.
Soraia Poloni +2 more
doaj +1 more source
Clinical Case Reports, Volume 13, Issue 8, August 2025.ABSTRACT Spontaneous abdominal aortic thrombosis in neonates due to various causes is a known entity. Hypernatremic dehydration with acute kidney injury/failure can also be one of the aetiologies. A 14‐ and 11‐day‐old term neonate born to primigravida mothers presented to two different facilities with a similar presentation of hypernatremic dehydration
Fauzia Ali Noor +9 more
wiley +1 more source
The FASEB Journal, Volume 39, Issue 13, 15 July 2025.The figure illustrates how high plasma glutathione levels can promote the dethiolation of homocysteinylated proteins, leading to the release of homocysteine. The freed homocysteine is then either excreted through the kidneys or further processed via cellular metabolism, supporting homocysteine clearance and metabolic balance.
Daniela Giustarini +3 more
wiley +1 more source
Cardiovascular findings in classic homocystinuria
Molecular Genetics and Metabolism Reports, 2020 Objective: describe cardiovascular findings from echocardiograms and electrocardiograms in patients with Classic Homocystinuria Methods: this retrospective exploratory study evaluated fourteen subjects with Classic Homocystinuria (median age = 27.3 years;
Marco Antônio Baptista Kalil +5 more
doaj +1 more source
On the Origin of Western Diet Pathologies [PDF]
, 2010 The ratio of the two sulfur-containing amino acids, methionine (Met) and cysteine (Cys), may be a determining factor for which foods contribute to longevity and health. It is shown here that substantially more Met than Cys is consistently found in foods,
John Schloss
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Clinical Case Reports, Volume 13, Issue 7, July 2025.ABSTRACT Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of folate metabolism. A number of phenotypic findings have been identified to date, and we hereby wish to expand its phenotype based on our Irish experience of the condition.
Eimear Loftus +7 more
wiley +1 more source
Defects in Human Methionine Synthase in cblG Patients [PDF]
, 2017 Inborn errors resulting in isolated functional methionine synthase deficiency fall into two complementation groups, cblG and cblE. Using biochemical approaches we demonstrate that one cblG patient has greatly reduced levels of methionine synthase while ...
Baker, Priscilla +6 more
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