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bk6_Hereditary Ataxia_aNORD Guides for Physicians #1 Th e N at io n al O rg an iz at io n f o r R ar e D is o rd er s This booklet is the first in a series of free publications

Documents Hereditary tyrosinemia type I–associated mutations in fumarylacetoacetate hydrolase reduce the...

Hereditary tyrosinemia type I–associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rateHereditary tyrosinemia

Documents HEREDITARY TYROSINEMIA

1060.tifH E R E D I T A R Y T Y R O S I N E M I A F o r m a t i o n o f S u c c i n y l a c e t o n e - A m i n o Acid A d d u c t s BY SHIGEO MANABE, SHIGERU SASSA, AND

Documents Tyrosinemia

014209_01 FST NBS Handbook of Metabolic Disorders Fact Sheet_TYRTyrosinemia Background Elevated blood Tyrosine levels are seen in three inherited disorders of Tyrosine metabolism.

Documents A Mouse Model of Renal Tubular Injury of Tyrosinemia Type 1: Development of de Toni Fanconi Syndrome...

js020000291pA Mouse Model of Renal Tubular Injury of Tyrosinemia Type 1: Development of de Toni Fanconi Syndrome and Apoptosis of Renal Tubular Cells inFah/HpdDouble Mutant

Documents Hereditary Tyrosinemia and the Heme Biosynthetic Pathway. PROFOUND INHIBITION OF...

Hereditary Tyrosinemia and the Heme Biosynthetic Pathway. PROFOUND INHIBITION OF δ-AMINOLEVULINIC ACID DEHYDRATASE ACTIVITY BY SUCCINYLACETONE Shigeru Sassa, Attallah

Documents Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1

2009119.930_933.tpClin Chem Lab Med 2009;47(8):930–933 2009 by Walter de Gruyter • Berlin • New York. DOI 10.1515/CCLM.2009.223 2007/119 Article in press