|1.||Wyse, Angela T S: 23 articles (08/2015 - 04/2002)|
|2.||Kraus, Jan P: 21 articles (09/2014 - 06/2002)|
|3.||Blom, Henk J: 13 articles (11/2015 - 01/2005)|
|4.||Wajner, Moacir: 13 articles (08/2015 - 04/2002)|
|5.||Kruger, Warren D: 13 articles (06/2014 - 03/2004)|
|6.||Allen, Robert H: 11 articles (01/2015 - 02/2002)|
|7.||Stabler, Sally P: 11 articles (01/2015 - 02/2002)|
|8.||Kožich, Viktor: 10 articles (11/2015 - 10/2010)|
|9.||Janel, Nathalie: 10 articles (02/2015 - 08/2003)|
|10.||Kozich, Viktor: 10 articles (07/2010 - 06/2002)|
|1.||Methionine (L-Methionine)FDA Link
12/01/2001 - "Our study suggests that methionine-free formulae should have Hcy eliminated and be fortified with Bet to the concentration of 150 mg/dL for the treatment of homocystinuria."
06/15/1970 - "Feeding chicks high levels of L-methionine-supplemented diets in the study of the experimental aspects of homocystinuria."
01/01/2015 - "It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic aciduria, low methionine level, and homocystinuria. "
04/01/2012 - "Out of them, three patients participated in the newborn screening program but were unidentified by the current newborn homocystinuria (using methionine as a marker) screening. "
01/18/2012 - "Methionine (Met) in blood and urine is a useful diagnostic marker for homocystinuria (HCU). "
05/01/2007 - "Further studies are necessary to investigate the precise role of homocysteine-lowering therapy in relation to DNA methylation in patients with homocystinuria."
10/01/1973 - "Although the concentration of homocysteine used in this study to demonstrate these effects in vitro is clearly higher than that which is observed in homocystinuric's plasma, the data do suggest a possible pathogenetic mechanism of connective tissue defect in homocystinuria."
01/01/2015 - "The implementation of a second-tier test for homocysteine in dried blood spots would considerably reduce the number of MAT I/III-deficient patients identified and improve the specificity and positive predictive value for classical homocystinuria screening. "
09/01/2014 - "Mutations in hCBS cause inherited homocystinuria (HCU), a rare inborn error of metabolism characterized by accumulation of toxic homocysteine in blood and urine. "
06/01/2013 - "Our findings suggest that cellular integrity is affected in patients with high homocysteine levels, thus indicating that phase angle could be a valuable indicator of prognosis and classical homocystinuria. "
|3.||Cystathionine beta-Synthase (Serine Sulfhydrase)IBA
01/01/2003 - "To explore the pathogenesis of cystathionine beta-synthase (CBS) deficiency and to test the efficacy of pharmacological therapy we examined a panel of metabolites in nine homocystinuric patients under treated and/or untreated conditions. "
02/01/2011 - "Several recent studies describing a solely vascular presentation of cystathionine beta-synthase (CBS) deficiency in adulthood prompted us to analyze the frequency of patients manifesting with vascular complications in the Czech Republic. "
04/01/2006 - "Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria."
12/01/2001 - "Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study."
01/01/1982 - "Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency."
|4.||Pyridoxine (Pyridoxin)FDA LinkGeneric
02/01/2011 - "In this study, we have demonstrated that CBS is present in human plasma and that its catalytic activity is detectable by LC-MS/MS. CBS assay in human plasma brings new possibilities in the diagnosis of pyridoxine nonresponsive CBS deficiency."
12/01/1997 - "These studies show that the G797A mutation is an important cause of pyridoxine-responsive CBS deficiency and demonstrate the utility of yeast functional assays in the analysis of human mutations."
03/01/1972 - "Studies of the mechanism of pyridoxine-responsive homocystinuria."
12/01/2013 - "Within Europe, the management of pyridoxine (B6) non-responsive homocystinuria (HCU) may vary but there is limited knowledge about treatment practice. "
12/01/2013 - "Dietary practices in pyridoxine non-responsive homocystinuria: a European survey."
|5.||Betaine (C.B.B.)FDA Link
08/01/2002 - "PK-PD modelling allows recommendations for optimal dosage of betaine in the treatment of homocystinuria, that have the potential for improved patient compliance and both therapeutic and pharmacoeconomic benefit."
04/01/2002 - "We conclude that early betaine therapy was safe and effective in our patient with neonatal onset methylmalonic aciduria and homocystinuria type CblC."
04/01/2002 - "[Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy]."
08/01/1989 - "The assignment of betaine was confirmed by two-dimensional 1H NMR studies of urine obtained from two adults with homocystinuria receiving treatment with oral betaine. "
01/01/2015 - "In the mouse CBS deficiency model, betaine was decreased in plasma, liver, heart and brain, but was conserved in kidney. "
03/01/1974 - "Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies."
10/01/2015 - "Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria."
03/01/2015 - "Classical homocystinuria is caused by mutations in the cystathionine β-synthase (CBS) gene. "
01/01/2015 - "The cystathionine β-synthase (CBS) gene has been shown to be related to homocystinuria. "
01/01/2015 - "Plasma and tissues were collected from rat models of HHcy induced by diet and from a mouse model of cystathionine β-synthase (CBS) deficiency. "
|7.||Vitamin B 6IBA
07/01/1994 - "We conclude that fibroblast levels of CBS are only partially effective as prognosticators of disease severity and that it is important to test the in vivo response to vitamin B6 in all cases of homocystinuria, including those in which the mutations lead to the absence of the enzyme in cultured fibroblasts."
03/01/1995 - "In homocystinuria, fetal outcome is good in women whose disorder is responsive to vitamin B6 therapy and is poor in women whose disorder is unresponsive to therapy. "
03/01/1993 - "Sensory neuropathy and vitamin B6 treatment in homocystinuria."
08/26/1971 - "Vitamin B6 dependency in homocystinuria."
07/01/1969 - "Homocystinuria: vitamin B6 dependent or not?"
|8.||Cysteine (L-Cysteine)FDA Link
07/01/2004 - "These studies provide evidence that homozygous disruption of Cbs perturbs redox homeostasis and reduces cysteine levels, raising the possibility that these changes may be important in the etiology of the clinical manifestations of CBS deficiency."
12/01/2008 - "Since cysteine levels in CBS deficiency are decreased, GSH production is presumed to be low. "
10/01/2007 - "These data might suggest that low cysteine levels account for the Marfanoid features observed in the girl and indicate that the CblC type of combined methylmalonic aciduria and homocystinuria should be considered in the differential diagnosis of patients with Marfanoid features."
12/01/1996 - "A possible explanation for the lack of increased susceptibility to oxidation, as would be expected for the metabolic blockade that cause classical homocystinuria, is the 4.1-fold decrease in the concentration of cysteine in the plasma of patients. "
02/01/1988 - "Interrelations between plasma free and protein-bound homocysteine and cysteine in homocystinuria."
|9.||Folic Acid (Vitamin M)FDA LinkGeneric
08/01/2002 - "It affects intracellular folate metabolism and results in homocystinuria and hypomethionemia. "
11/01/1997 - "On high-dose folic acid, biochemical abnormalities such as formiminoglutamate excretion and homocystinuria nearly normalized, but clinical and haematological abnormalities remained. "
09/01/1995 - "Low levels of folate in serum, red blood cells and CSF associated with homocystinuria are constant. "
11/01/1966 - "Folate metabolism in homocystinuria."
01/01/2001 - "Severe enzyme deficiency leads to hyperhomocysteinemia and homocystinuria, with altered folate distribution and a phenotype that is characterized by damage to the nervous and vascular systems. "
07/01/1998 - "Excessive growth of long bones in patients with homocystinuria is still unexplained and previous work incriminating homocysteic acid could not be confirmed by others. "
04/12/1996 - "This significant reduction of cross-links in the group with homocystinuria did not correlate with serum homocysteine or homocysteic acid concentrations. "
07/01/1998 - "Growth promotion by homocysteine but not by homocysteic acid: a role for excessive growth in homocystinuria or proliferation in hyperhomocysteinemia?"
07/01/1998 - "This observation made us study plasma cyclin dependent kinase (CDK), homocyst(e)ine and homocysteic acid in 10 patients with homocystinuria and 20 controls. "
05/01/1975 - "The growth disorders associated with homocystinuria, including arteriosclerosis and accelerated growth, are believed to result from increased conversion of methionine to homocysteine thiolactone and homocysteic acid."
|1.||Protein-Restricted Diet (Diet, Protein Restricted)
05/01/2012 - "Enhanced cardiovascular risk due to homocystinuria and impaired renal function has been found in patients with phenylketonuria (PKU) on protein-restricted diet. "
05/01/2012 - "In the present study, we investigated the status of the L-arginine/NO pathway in six young patients with homocystinuria, in 52 young phenylketonuria patients on natural protein-restricted diet, and in age- and gender-matched healthy children serving as controls. "
10/01/2007 - "Regimens applicable in adult neurology include low protein diet (phenylketonuria, homocystinuria, urea cycle disorders, organic acidurias), low fatty acid diets (fatty acid B oxidation defects, adrenomyeloneuropathy, Refsum's disease) and ketogenic diet (pyruvate dehydrogenase deficiency, glucose transporter (GLUT1) deficiency, refractory epilepsy). "
04/01/1998 - "The surgical procedure presented in this report seems to be useful for dealing with dislocated lenses due to zonular deficiency in patients with CBS deficiency and hopefully with Marfan disease. "
10/01/1965 - "Dislocated lenses and homocystinuria."
10/01/1993 - "The most frequent symptoms of homocystinuria include: dislocated optic lenses, vascular disorders, skeletal abnormalities and mental retardation. "
01/01/1976 - "The Marfan syndrome, homocystinuria, and the Weill-Marchesani together account for the majority of dislocated lenses. "
11/01/1972 - "Surgical treatment of dislocated lenses in the Marfan syndrome and homocystinuria."
09/01/2002 - "General anesthesia for patient with homocystinuria--a case report."
09/01/1980 - "Comprehensive dental treatment under general anesthesia for patients with homocystinuria."
01/01/1976 - "In homocystinuria, because of the potential vascular complications of general anesthesia, the ophthalmologist is often in a dilemma. "
12/01/1999 - "Pars plana vitrectomy with the patient under general anesthesia can be carried out safely despite the risks traditionally associated with homocystinuria."
12/01/1999 - "In a 32-year-old woman with homocystinuria, bilateral dislocation of the lens into the vitreous, and phacolytic glaucoma in her left eye a three-port pars plana vitrectomy was performed with the patient under general anesthesia. "
|4.||Drug Therapy (Chemotherapy)
01/01/2002 - "All children had predisposing factors for thrombus formation: ventriculoatrial shunt for hydrocephalus (n = 3), indwelling catheter for chemotherapy (n = 5), cardiomyopathy (n = 2), sepsis (n = 1), homocystinuria (n = 1) and tetralogy of Fallot (n = 1). "
05/01/2006 - "Gemcitabine and carboplatin chemotherapy safely administered to a patient with homocystinuria."
|5.||Diet Therapy (Therapy, Diet)