Results 81 to 90 of about 6,563 (194)

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]

, 2004
CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
John W. Scott, D. Grahame Hardie, Norman, D G, Miliea Anis, Scullion, Gillian A., Stewart, Greg, Scullion, Gillian A, Scott, J.W, Green, Kevin A, Simon A. Hawley, David G. Norman, Hawley, Simon A., Norman, David G., Gillian A. Scullion, Kevin A. Green, Scott, John W., Anis, Miliea, Green, Kevin A., Hardie, D. Grahame, Hawley, Simon A, Greg Stewart   +20 more
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Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis [PDF]

, 2015
How to Cite This Article: Eslamiyeh H, Ashrafzadeh F, Akhondian J, Beiraghi Toosi M. Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis. Iran J Child Neurol.
AKHONDIAN, Javad, ESLAMIYEH, Hossein, ASHRAFZADEH, Farah, BEIRAGHI TOOSI, Mehran   +3 more
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Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein

Biomedicines
Background: Cystathione beta-synthase (CBS) T236N is a novel mutation associated with pyridoxine non-responsiveness, which presents a significant difficulty in the medical treatment of homocystinuria. Reported severe phenotypes in homocystinuria patients
Duaa W. Al-Sadeq, Angelos Thanassoulas, Maria Theodoridou, Gheyath K. Nasrallah, Michail Nomikos   +4 more
doaj   +1 more source

Navigating thrombotic terrain: unveiling a novel homocystinuria mutation associated with thrombophilia in a 16 year old

Bulletin of the National Research Centre
Background Thrombophilia is characterised by an abnormality of blood coagulation that increases thrombosis. Homocystinuria encompasses a group of disorders marked by increased levels of homocysteine and other amino acids detectable in the bloodstream and
Poojitha Tulasi, Amulya Veeramachaneni, Niranjan Kamble, Darshan Rajatadri Rangaswamy   +3 more
doaj   +1 more source

Homocystinuria and Stroke

, 2013
Homocystinuria refers to the rare inherited disorders of metabolism in which homocysteine is severely elevated in plasma and urine.
Aki Kawasaki
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Urgent need for new-born screening and clinical awareness of homocystinuria in Pakistan

Journal of the Pakistan Medical Association
Dear Editor, I wish to draw attention to an under-recognised but significant metabolic disorder, homocystinuria, which remains vastly underdiagnosed in Pakistan.
Muhammad Rizwan Farooq, Romaisa Sultan
doaj   +1 more source

Megalocornea and microspherophakia in homocysteinemia: A rare association

Indian Journal of Ophthalmology. Case Reports, 2023
Manju R Pillai, Sameer Chaudhary, Niyati P Gandhi, Toshit Varshney, Naresh B Kannan   +4 more
doaj   +1 more source

Homocistinemia, factor de riesgo oculto en la enfermedad cerebrovascular isquémica: Presentación de un caso

Revista Cubana de Medicina, 2003
La homocisteína y su metabolismo han sido objeto de estudios, desde la década de los 60, se ha considerado la relación existente entre ella y el desarrollo de aterosclerosis y enfermedades vasculares.
Liván Rodríguez Mutuberría, Yusimí Serra Valdés, Eduardo Álvarez González   +2 more
doaj  

Homocystinuria and hyperhomocysteinaemia in the Western Cape

, 2002
Thesis (DTech (Biomedical Technology)) -- Cape Technikon, 2002Research into the role of homocyst(e)ine in cellular functions was stimulated by homocystinuria, a severe autosomal recessive disorder caused by, in the classic case, deficiency of ...
Human, Lucille
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Acute psychosis in an adolescent with undiagnosed homocystinuria

, 2015
Homocystinuria due to cystathionine-β-synthase deficiency (CBS deficiency) usually presents with ectopia lentis, myopia, intellectual disability, skeletal anomalies resembling Marfan syndrome, and thromboembolic events.
COLAFRANCESCO, GIADA, Stoppioni, Vera, DI MARZIO, GIULIA MARIA, FERRARA, Mauro, ABBRACCIAVENTO, GIUSEPPE, LEUZZI, Vincenzo   +5 more
core   +1 more source