hereditary tyrosinemia

hereditary tyrosinemia

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Sobi said it has received approval for a reduced dosing frequency for its treatment for hereditary tyrosinemia type 1 (HT-1).
Carglumic acid formulation is the fourth Dipharma product approaching the market: Diterin (sapropterin dihydrochloride 100 mg tabs) has already been approved in South Korea and Russia for the treatment of hyperphenylalaninemia (HPA) due to phenylketonuria (PKU), Miglustat (miglustat 100 mg caps) was submitted in the USA through an abbreviated new drug application (ANDA) in 2016 for the treatment of Gaucher disease and Disanit[R] (nitisinone capsules) was submitted in EU in the last quarter of 2016 for the treatment of hereditary tyrosinemia type I.
Hereditary Tyrosinemia Type 1 (TT1) is an autosomal recessive disorder that is characterized by the deficiency of the FAH enzyme in the tyrosine catabolic pathway, resulting in the elevation of tyrosine and its byproducts in the blood, CSF, and tissues.
Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I.
Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases.
It is also known as tyrosinemia type 1, hereditary tyrosinemia, congenital tyrosinosis, and fumarylacetoacetate hydrolase (FAH) deficiency (FAHD), and is assigned OMIM 276700.
KEY WORDS: cancer, dichloroacetate, glutathione transferase zeta, hereditary tyrosinemia, maleylacetoacetate isomerase, mitochondrial disease, peripheral neuropathy, pyruvate dehydrogenase, toxicogenetics.
Spectrophotometric microassay for 8aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type 1.
Swedish Orphan brings two proprietary orphan drugs to the new entity -- Orfadin for hereditary tyrosinemia type 1 and Multiferon for advanced malignant melanoma and second-line treatment of patients who are not responding to or intolerant to recombinant interferon alpha.
Nashville, TN has received approval from the FDA to market nitisinone capsules under the name of Orfadin to treat hereditary tyrosinemia type 1 (HT-1), a rare pediatric disease causing progressive liver failure and liver cancer in young children.
Hereditary tyrosinemia is a genetic inborn error of metabolism associated with severe liver disease in infancy.
for the distribution of Orfadin(R) for the treatment of Hereditary Tyrosinemia Type I.

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