scholarly journals Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy

2017 ◽  
pp. 55-61 ◽  
Author(s):  
Sally P. Stabler ◽  
Cynthia Freehauf ◽  
Robert H. Allen ◽  
Janet Thomas ◽  
Renata Gallagher
Keyword(s):  
Cystathionine Beta Synthase

Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions

2016 ◽  
Vol 17 (13) ◽  
pp. 1455-1470 ◽  
Author(s):  
Tomas Majtan ◽  
Angel L. Pey ◽  
June Ereño-Orbea ◽  
Luis Alfonso Martínez-Cruz ◽  
Jan P. Kraus
Keyword(s):  
State Of The Art ◽  
Future Directions ◽  
Cystathionine Beta Synthase ◽  
Small Ligands

scholarly journals Rat cystathionine beta-synthase. Gene organization and alternative splicing.

1992 ◽  
Vol 267 (16) ◽  
pp. 11455-11461
Author(s):  
M Swaroop ◽  
K Bradley ◽  
T Ohura ◽  
T Tahara ◽  
M.D. Roper ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Gene Organization ◽  
Cystathionine Beta Synthase

Molecular and Clinical Characterisation of Homocystinuria in Two Austrian Families with Cystathionine beta-Synthase Deficiency

2001 ◽  
Vol 28 (5) ◽  
pp. 145-151 ◽  
Author(s):  
Ursula Trondle1 ◽  
G. Sunder-Plassmann2 ◽  
H. Burgmann3 ◽  
Heidi Buchmayer1 ◽  
L. Kramer4 ◽  
...  
Keyword(s):  
Cystathionine Beta Synthase

L’omocistinuria classica in età pediatrica

2021 ◽  
Vol 24 (10) ◽  
pp. 309-313
Author(s):  
Aldo Ravaglia ◽  
Giulia Costagliola ◽  
Marco Spada
Keyword(s):  
Connective Tissue ◽  
Early Diagnosis ◽  
Newborn Screening ◽  
Developmental Delay ◽  
Inborn Error ◽  
Specific Therapy ◽  
Cystathionine Beta Synthase ◽  
Expanded Newborn Screening

Classical homocystinuria is an inborn error of methionin metabolism. It is characterized by an accumulation of homocysteine, due to a deficiency of the enzyme involved in its metabolism, namely cystathionine beta synthase. If not treated, the increase in homocysteine leads to a multisystem syndrome that involves connective tissue, nervous and vascular systems with a predisposition to thromboembolism and developmental delay in childhood. An early diagnosis allows the specific therapy to be promptly started and prevents the classical manifestations of the disease. Since 2016 in Italy homocystinuria detection has been included in the expanded newborn screening. However, it is important not to forget this disease, because of its severe consequences of an untreated condition on the quality and expectancy of life.

Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase

2018 ◽  
Vol 28 (4) ◽  
pp. 311-323 ◽  
Author(s):  
Tomas Majtan ◽  
Jakub Krijt ◽  
Jitka Sokolová ◽  
Michaela Křížková ◽  
Maria A. Ralat ◽  
...  
Keyword(s):  
Hydrogen Sulfide ◽  
Cystathionine Beta Synthase

scholarly journals Effects of s-Adenosylmethionine on Cystathionine beta-Synthase Catalysis

2000 ◽  
Vol 40 (supplement) ◽  
pp. S178
Author(s):  
Y. Kamikozawa ◽  
T. Tomita ◽  
M. Sato ◽  
T. Yosida ◽  
M. Saito
Keyword(s):  
Cystathionine Beta Synthase

scholarly journals Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles

2001 ◽  
Vol 18 (6) ◽  
pp. 548-549 ◽  
Author(s):  
J. Sokolová ◽  
B. Janošíková ◽  
J.D. Terwilliger ◽  
T. Freiberger ◽  
J. P. Kraus ◽  
...  
Keyword(s):  
Central Europe ◽  
Genetic Screening ◽  
Molecular Genetic ◽  
Cystathionine Beta Synthase
Sign in / Sign up

Export Citation Format

Share Document