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What is newborn screening? Newborn screening is a blood test to check for conditions that might be hidden at birth. To do the screening, a nurse takes a few drops of blood

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 Interesting case (Tyrosinemia type 1)

A 3-year and 7-month-old girl with hepatomegaly .. .. 3 7 : 1 - 1 . 3 . - 6 . 2 . - 1 . 2 5-6 . - - Good consciousness, look well, BW 14.7 kg (P50), height 103.5 cm (P97)

Documents Hepatic Enzymes of Tyrosine Metabolism in Tyrosinemia II

Hepatic Enzymes of Tyrosine Metabolism in Tyrosinemia IIVol. 73, No.6 Printed in U.S.A. Hepatic Enzymes of Tyrosine Metabolism in Tyrosinemia II LOWELL A. GOLDSMITH, MD,

Documents mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in....

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse modelOriginal Article mRNA-based therapy proves superior to the

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