hereditary tyrosinemia

hereditary tyrosinemia

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KEY WORDS: cancer, dichloroacetate, glutathione transferase zeta, hereditary tyrosinemia, maleylacetoacetate isomerase, mitochondrial disease, peripheral neuropathy, pyruvate dehydrogenase, toxicogenetics.
For some of these children, maleylacetone levels approached or exceeded those found in children with hereditary tyrosinemia type 1 (Shroads AL, Langaee T, Coats BS, Kurtz TL, Bullock JR, Weithorn D, Gong Y, Wagner DA, Ostrov DA, Johnson JA, Stacpoole PW, unpublished observations) [see Supplemental Material, Text E (doi:10.
Spectrophotometric microassay for 8aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type 1.
The compound, called SYN-118, is a hydroxyphenylpyruvate dioxygenase (HPPD) inhibitor, and is already approved in the US and Europe for the treatment of hereditary tyrosinemia type 1, a life-threatening metabolic disorder.
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.
Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I.
The FDA notified Swedish Orphan International AB based in Stockholm, Sweden that it has granted marketing approval for Orfadin(R) Capsules (nitisinone) an orphan designated product as an adjunct to dietary restriction of tyrosine and phenylalanine in the treatment of Hereditary Tyrosinemia Type I (HTI).
Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I.
The primary enzyme defect in hereditary tyrosinemia type I (HT [1]; McKusick 276700) has been attributed to a deficiency of fumarylacetoacetase (EC 3.

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