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Year Number of Results
1989 1
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Page 1
Hyperhomocysteinaemia.
Perry DJ. Perry DJ. Baillieres Best Pract Res Clin Haematol. 1999 Sep;12(3):451-77. doi: 10.1053/beha.1999.0036. Baillieres Best Pract Res Clin Haematol. 1999. PMID: 10856981 Review.
Homocysteine is a sulphur-containing amino acid that is derived primarily from protein of animal origin. Classical homocystinuria is an inherited metabolic disorder that arises from defects in either the re-methylation or trans-sulphuration pathways of homocysteine …
Homocysteine is a sulphur-containing amino acid that is derived primarily from protein of animal origin. Classical homocystinuria …
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
Tran C, Bonafé L, Nuoffer JM, Rieger J, Berger MM. Tran C, et al. Clin Nutr. 2018 Aug;37(4):1114-1120. doi: 10.1016/j.clnu.2017.07.013. Epub 2017 Jul 25. Clin Nutr. 2018. PMID: 28779878 Review.
BACKGROUND: Homocystinuria due to cystathionine beta synthase (CBS) deficiency presents with a wide clinical spectrum. ...RESULTS: Nutritional management of decompensated classical homocystinuria is complex and currently no recommendation exists regarding PN …
BACKGROUND: Homocystinuria due to cystathionine beta synthase (CBS) deficiency presents with a wide clinical spectrum. ...RESULTS: Nu …
Cystathionine β-synthase deficiency: Of mice and men.
Kruger WD. Kruger WD. Mol Genet Metab. 2017 Jul;121(3):199-205. doi: 10.1016/j.ymgme.2017.05.011. Epub 2017 May 19. Mol Genet Metab. 2017. PMID: 28583326 Free PMC article. Review.
It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine. ...
It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterize …
Neurologic manifestations of inherited disorders of connective tissue.
Debette S, Germain DP. Debette S, et al. Handb Clin Neurol. 2014;119:565-76. doi: 10.1016/B978-0-7020-4086-3.00037-0. Handb Clin Neurol. 2014. PMID: 24365320 Review.
Inherited disorders of connective tissue are single gene disorders affecting structure or function of the connective tissue. Neurological manifestations are classic and potentially severe complications of many such disorders. The most common neurological manifestations are …
Inherited disorders of connective tissue are single gene disorders affecting structure or function of the connective tissue. Neurological ma …
Treatment of inherited homocystinurias.
Schiff M, Blom HJ. Schiff M, et al. Neuropediatrics. 2012 Dec;43(6):295-304. doi: 10.1055/s-0032-1329883. Epub 2012 Nov 2. Neuropediatrics. 2012. PMID: 23124942 Review.
Inherited homocystinurias, have in common, accumulation of homocysteine with subsequent neurotoxicity; they also encompass two distinctive clinical entities: classical homocystinuria due to cystathionine beta-synthase (CBS) deficiency and the rare inborn erro …
Inherited homocystinurias, have in common, accumulation of homocysteine with subsequent neurotoxicity; they also encompass two distin …
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
Majtan T, Pey AL, Gimenez-Mascarell P, Martínez-Cruz LA, Szabo C, Kožich V, Kraus JP. Majtan T, et al. Handb Exp Pharmacol. 2018;245:345-383. doi: 10.1007/164_2017_72. Handb Exp Pharmacol. 2018. PMID: 29119254 Review.
Classical homocystinuria (HCU) is the most common loss-of-function inborn error of sulfur amino acid metabolism. ...
Classical homocystinuria (HCU) is the most common loss-of-function inborn error of sulfur amino acid metabolism. ...
[Pulmonary phenotypes of inborn errors of metabolism].
Mauhin W, Brassier A, London J, Subran B, Zeggane A, Besset Q, Jammal C, Montardi C, Mellot C, Strauss C, Borie R, Lidove O. Mauhin W, et al. Rev Mal Respir. 2022 Nov;39(9):758-777. doi: 10.1016/j.rmr.2022.09.002. Epub 2022 Oct 10. Rev Mal Respir. 2022. PMID: 36229356 Review. French.
In this review, we focus on different metabolic diseases with respiratory symptoms in adults: lysosomal glycosphingolipidoses such as acid sphingomyelinase deficiency (Niemann-Pick types A and B disease), Gaucher, Fabry, Pompe diseases and mucopolysaccharidoses in general. We als …
In this review, we focus on different metabolic diseases with respiratory symptoms in adults: lysosomal glycosphingolipidoses such as acid s …
When to measure plasma homocysteine and how to place it in context: The homocystinurias.
Huemer M. Huemer M. J Mother Child. 2020 Oct 2;24(2):39-46. doi: 10.34763/jmotherandchild.20202402si.2016.000007. J Mother Child. 2020. PMID: 33179601 Free PMC article. Review.
Based on this premise, the severity of clinical presentations of inborn errors of metabolism, such as classical homocystinuria or the cobalamin C (cblC) defect, affecting this pathway is unsurprising....
Based on this premise, the severity of clinical presentations of inborn errors of metabolism, such as classical homocystinuria …
Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.
Bublil EM, Majtan T. Bublil EM, et al. Biochimie. 2020 Jun;173:48-56. doi: 10.1016/j.biochi.2019.12.007. Epub 2019 Dec 16. Biochimie. 2020. PMID: 31857119 Review.
Genetic defects in cystathionine beta-synthase (CBS), a key enzyme of organic sulfur metabolism, result in deficiency of CBS activity and a rare inborn error of metabolism called classical homocystinuria (HCU). HCU is characterized by massive accumulation of homocys …
Genetic defects in cystathionine beta-synthase (CBS), a key enzyme of organic sulfur metabolism, result in deficiency of CBS activity and a …
Clinical and laboratory features of homocystinuria.
Cacciari E, Salardi S. Cacciari E, et al. Haemostasis. 1989;19 Suppl 1:10-3. doi: 10.1159/000216090. Haemostasis. 1989. PMID: 2680808 Review.
Classic homocystinuria is an autosomal recessive metabolic disease due to a cystathionine-beta-synthase deficiency with consequent blocking of homocysteine and serine condensation for producing cystathionine. ...
Classic homocystinuria is an autosomal recessive metabolic disease due to a cystathionine-beta-synthase deficiency with conseq …
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