No evidence for hyperhomocysteinemia or increased prevalence of genetic polymorphisms in the homocysteine pathway in patients with moderate juvenile idiopathic …
M Huemer, C Huemer, H Ulmer, J Crone… - The Journal of …, 2005 - jrheum.org
OBJECTIVE: Elevated plasma total homocysteine (tHcy) concentrations are associated with
premature cardiovascular disease. We assessed tHcy, folate, vitamin B12 (Vit B12), vitamin …
premature cardiovascular disease. We assessed tHcy, folate, vitamin B12 (Vit B12), vitamin …
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease‐causing mutation
C Gherasim, DS Rosenblatt, R Banerjee - Human mutation, 2007 - Wiley Online Library
Methionine synthase reductase (MTRR) is the locus of the cblE class of inborn errors of
cobalamin metabolism that is characterized by megaloblastic anemia and homocystinuria …
cobalamin metabolism that is characterized by megaloblastic anemia and homocystinuria …
Genetic aspects of hyperhomocysteinemia in chronic kidney disease
G Sunder-Plassmann, WC Winkelmayer… - Seminars in …, 2006 - Elsevier
Patients with chronic kidney disease who are on dialysis or with a kidney transplant have
higher total plasma homocysteine concentrations than individuals who are free from kidney …
higher total plasma homocysteine concentrations than individuals who are free from kidney …
Identification of a functionally impaired allele of human novel oxidoreductase 1 (NDOR1), NDOR1
RD Finn, M Wilkie, G Smith… - Pharmacogenetics and …, 2005 - journals.lww.com
Objectives Human novel oxidoreductase 1 (NDOR1) is a diflavin reductase closely related to
cytochrome P450 reductase (POR) and nitric oxide synthase (NOS), which are involved in …
cytochrome P450 reductase (POR) and nitric oxide synthase (NOS), which are involved in …
[HTML][HTML] Olecular mechanism underlying the myeloperoxidase induced apoptosis of HUVEC-12 cells
M Ouyang, H Liu, K Yang, W Jiang, Q Ding… - … Journal of Clinical …, 2014 - ncbi.nlm.nih.gov
Objective: This study aimed to investigate the molecular mechanism underlying the
myeloperoxidase (MPO) induced apoptosis of human umbilical vein endothelial cells …
myeloperoxidase (MPO) induced apoptosis of human umbilical vein endothelial cells …
Prenatal diagnosis of miscellaneous biochemical disorders
DS Rosenblatt, D Watkins - Genetic Disorders and the Fetus …, 2015 - Wiley Online Library
This chapter discusses disorders of folate metabolism and those of cobalamin metabolism,
and summarizes advances in the prenatal diagnosis of these disorders. The genes for all of …
and summarizes advances in the prenatal diagnosis of these disorders. The genes for all of …
[PDF][PDF] La mutación 677 C> T en la 5, 10 metilentetrahidrofolato reductasa y el aumento de homocisteína en pacientes mexicanos con un estado de trombofilia
IP Ortega, RAE Gómez, MOG García - Medicina Interna de México, 2007 - researchgate.net
Antecedente: la hiperhomocisteinemia es un factor de riesgo independiente de
aterosclerosis y aterotrombosis. Los individuos con la mutación 677 C> T en la 5, 10 …
aterosclerosis y aterotrombosis. Los individuos con la mutación 677 C> T en la 5, 10 …
Human pathologies and Aberrant sulfur metabolism
DM Townsend, H Tapiero… - Glutathione and Sulfur …, 2009 - Wiley Online Library
Sulfur is found in relatively small quantities in biological molecules. It has numerous
properties that make it valuable in facilitating protein structure–function relationships that are …
properties that make it valuable in facilitating protein structure–function relationships that are …
Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism
DS Rosenblatt, D Watkins - Genetic Disorders and the Fetus, 2021 - Wiley Online Library
Folate and cobalamin (vitamin B12) are B group vitamins that play interacting roles in
cellular metabolism. Hereditary folate malabsorption results in a specific deficiency of folate …
cellular metabolism. Hereditary folate malabsorption results in a specific deficiency of folate …