Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Riccardo C. Longhi"'
Publikováno v:
Pediatric Research. 11:100-103
Summary: The thermostability of cystathionine synthase and the effect of pyridoxal phosphate (PLP) on this thermostability were investigated in extracts of normal human liver and in extracts of liver, both before and during pyridoxine (vitamin B6) th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99f454860dc2b28b633c59f82f1cef94
https://doi.org/10.1203/00006450-197702000-00003
https://doi.org/10.1203/00006450-197702000-00003
Autor:
Gerald E. Gaull, Kurt Hirschhorn, Lynn D. Fleisher, Nicholas G. Beratis, Riccardo C. Longhi, Harris H. Tallan
Publikováno v:
The Journal of Pediatrics. 85:677-680
CYSTATHIONINE SYNTHASE DEFICIENCY (Fig. 1), which is inherited in an autosomal recessive manner , results in the clinical syndrome of homocystinuria. The full clinical picture is distinct 1 and may include dislocation of the optic lenses, progressive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc81445444283d017849c8896a522493
https://doi.org/10.1016/s0022-3476(74)80516-0
https://doi.org/10.1016/s0022-3476(74)80516-0
Publikováno v:
Pediatric research. 12(4 Pt 1)
Cystathionine β-Synthase Deficiency: Differences in Thermostability between Normal and Abnormal Enzyme from Cultured Human Cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c47370dfa662984efec21083c7f71087
https://pubmed.ncbi.nlm.nih.gov/652410
https://pubmed.ncbi.nlm.nih.gov/652410
Publikováno v:
The Journal of pediatrics. 91(4)
Patients with homocystinuria due to cystathionine synthase deficiency do not have free homocystine in the liver when it is present in high concentrations in the plasma and the urine. The liver of these patients is capable of maintaining normal concen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63b5deba226a2c7e55e8c285ea0fce99
https://pubmed.ncbi.nlm.nih.gov/908976
https://pubmed.ncbi.nlm.nih.gov/908976
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 79(1)
The metabolic response of patients with homocystinuria due to cystabhionine synthase deficiency to oral loads of homocysteine indicates: that even severely affected patients with homocystinuria have pools of cystine in their tissues; that control of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60679389ea0858057d8bdf39b2f273fd
https://pubmed.ncbi.nlm.nih.gov/890952
https://pubmed.ncbi.nlm.nih.gov/890952