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Article Published: 01 May 1968 The Biosynthesis of Cystathionine in Patients with Homocystinuria P W K Wong, V Schwarz & G M Komrower Pediatric Research 2, 149–160 (1968) Cite this article ...
More information about, including participation criteria for the Natural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH), is available here. About Orphan Technologies ...
Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.
About Homocystinuria Classical homocystinuria is a rare genetic metabolic disorder caused by a deficiency in the enzyme cystathionine beta synthase (CBS).
Homocystinuria is a disease caused by the deficiency or anomalous function of a protein, with serious consequences such as skeletal deformities, vascular thrombosis and even mental retardation. It ...
New technique determines which patients with homocystinuria are most likely to respond to vitamin B6 treatment based on their genotypes Date: April 9, 2012 Source: Genetics Society of America ...
Classical homocystinuria (HCU) is a rare metabolic disease characterized by extreme levels of homocysteine caused by an inherited deficiency in the cystathionine beta-synthase (CBS) enzyme.
Aeglea is developing ACN00177 for the treatment of patients with cystathionine beta synthase (CBS) deficiency, also known as Classical Homocystinuria. Homocysteine accumulation plays a key role in ...
CDX-6512 is a gastrointestinal-stable methionine-gamma-lyase, as a potential orally-administered enzyme therapy for homocystinuria (HCU). The FDA also granted the co ...
Homocystinuria (HCY) is a rare condition that interferes with your body’s ability to break down a protein from the food you eat. Protein is made of smaller building blocks called amino acids ...
HCU is a rare autosomal recessive inherited sulfur amino acid metabolism disorder primarily caused by a cystathionine beta-synthase deficiency (CBS). HCU patients have a broad spectrum of age ...