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Quoted phrase not found in phrase index: "Familial methionine malabsorption"
Page 1
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR. Burda P, et al. J Inherit Metab Dis. 2015 Sep;38(5):863-72. doi: 10.1007/s10545-015-9810-3. Epub 2015 Jan 30. J Inherit Metab Dis. 2015. PMID: 25633902 Free article. Review.
We now describe four additional patients from two different families. The second patient presented with hyperhomocysteinemia, megaloblastic anaemia, HUS, microangiopathy and retinopathy; all except the retinopathy resolved after treatment with hydroxocobalamin, betaine and …
We now describe four additional patients from two different families. The second patient presented with hyperhomocysteinemia, megalob …
Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran.
Ventura P, Sardh E, Longo N, Balwani M, Plutzky J, Gouya L, Phillips J, Rhyee S, Fanelli MJ, Sweetser MT, Petrides PE. Ventura P, et al. Expert Rev Gastroenterol Hepatol. 2022 Sep;16(9):879-894. doi: 10.1080/17474124.2022.2110469. Epub 2022 Aug 25. Expert Rev Gastroenterol Hepatol. 2022. PMID: 35929959 Free article.
INTRODUCTION: Homocysteine is a sulfur-containing amino acid formed in the intermediary metabolism of methionine. Amino acid metabolism and heme biosynthesis pathways are complexly intertwined. Plasma homocysteine elevation, hyperhomocysteinemia (HHcy), has been reported i …
INTRODUCTION: Homocysteine is a sulfur-containing amino acid formed in the intermediary metabolism of methionine. Amino acid metaboli …
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
Kelly PJ, Furie KL, Kistler JP, Barron M, Picard EH, Mandell R, Shih VE. Kelly PJ, et al. Neurology. 2003 Jan 28;60(2):275-9. doi: 10.1212/01.wnl.0000042479.55406.b3. Neurology. 2003. PMID: 12552044
Mechanisms of cerebrovascular disease were carotid intraluminal thrombosis, arterial dissection, and possible cardiac embolism. Family screening revealed additional members with clinically silent homocystinuria and severe Hyper-Hcy. Excluding tall stature in two individual …
Mechanisms of cerebrovascular disease were carotid intraluminal thrombosis, arterial dissection, and possible cardiac embolism. Family …
An Inframe Trinucleotide Deletion in MTRR Exon 1 is Associated with the Risk of Spina Bifida.
Zhang J, Dai XL, Liu GC, Wang J, Ren XY, Jin MH, Mi NN, Wang SQ. Zhang J, et al. Neuromolecular Med. 2017 Sep;19(2-3):387-394. doi: 10.1007/s12017-017-8452-z. Epub 2017 Jul 15. Neuromolecular Med. 2017. PMID: 28712006
To survey the genetic causality, the genotypes of three women having spina bifida fetuses from two unrelated Chinese families were screened in candidate alleles. Polymerase chain reaction, capillary electrophoresis and Sanger sequencing were employed to recognize the allel …
To survey the genetic causality, the genotypes of three women having spina bifida fetuses from two unrelated Chinese families were sc …
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.
Tonetti C, Saudubray JM, Echenne B, Landrieu P, Giraudier S, Zittoun J. Tonetti C, et al. Eur J Pediatr. 2003 Jul;162(7-8):466-475. doi: 10.1007/s00431-003-1196-9. Epub 2003 May 6. Eur J Pediatr. 2003. PMID: 12733064
MTHFR catalyses the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, a cofactor for homocysteine remethylation to methionine. MTHFR deficiency may be diagnosed from infancy to adulthood with a broad spectrum of clinical symptoms. ...A total of 14 mutations …
MTHFR catalyses the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, a cofactor for homocysteine remethylation to methio …
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.
van der Werf CS, Sribudiani Y, Verheij JB, Carroll M, O'Loughlin E, Chen CH, Brooks AS, Liszewski MK, Atkinson JP, Hofstra RM. van der Werf CS, et al. Genet Med. 2013 Apr;15(4):310-3. doi: 10.1038/gim.2012.123. Epub 2012 Oct 4. Genet Med. 2013. PMID: 23037936 Free article.
PURPOSE: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. ...The deletion is located between …
PURPOSE: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males o …
Extensive deep vein thrombosis in a young woman. Case report.
De Backer T, Voet J, De Buyzere M, Vertongen P, T'sjoen G, Duprez D, Clement D. De Backer T, et al. Int Angiol. 2000 Dec;19(4):369-72. Int Angiol. 2000. PMID: 11305739
Contributory factors were relative immobilisation, oral contraception and hyperhomocysteinemia after methionine loading. No other thrombophilic factors could be found. The three main causes of hyperhomocysteinemia are genetic defects, nutritional deficiencies and insuffici …
Contributory factors were relative immobilisation, oral contraception and hyperhomocysteinemia after methionine loading. No other thr …