Results 161 to 170 of about 6,468 (222)
Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions. [PDF]
Int J Neonatal ScreenMonostori P +23 more
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A review of adult and pediatric post-transplant liver pathology. [PDF]
, 1987 Demetris, AJ, Jaffe, R, Starzl, TE
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Therapeutic in vivo genome editing: innovations and challenges in rAAV vector-based CRISPR delivery. [PDF]
Gene TherGil JS, Lee S, Koo T.
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2017
Abstract This chapter discusses tyrosinemia, including the biochemical and clinical abnormalities associated with tyrosinemia type I, tyrosinemia type II, tyrosinemia type III, hawkinsinuria, and alkaptonuria. Factors to be considered in nutritional intervention, such as energy requirements, a diet low in phenylalanine and tyrosine, and ...
Francjan van Spronsen, Margreet van Rijn
exaly +3 more sources
Abstract This chapter discusses tyrosinemia, including the biochemical and clinical abnormalities associated with tyrosinemia type I, tyrosinemia type II, tyrosinemia type III, hawkinsinuria, and alkaptonuria. Factors to be considered in nutritional intervention, such as energy requirements, a diet low in phenylalanine and tyrosine, and ...
Francjan van Spronsen, Margreet van Rijn
exaly +3 more sources
Acta Pathologica Japonica, 1979
A case of tyrosinemia in a three‐month‐old boy is presented. The patient appeared jaundiced initially with markedly elevated levels of serum tyrosine and a positive Millon‐reacting urine. Jaundice persisted and hepatospleno‐megaly gradually increased. He died due to liver failure on the 51st day after admission.
Y, Shinohara +5 more
openaire +2 more sources
A case of tyrosinemia in a three‐month‐old boy is presented. The patient appeared jaundiced initially with markedly elevated levels of serum tyrosine and a positive Millon‐reacting urine. Jaundice persisted and hepatospleno‐megaly gradually increased. He died due to liver failure on the 51st day after admission.
Y, Shinohara +5 more
openaire +2 more sources
Pediatric and Developmental Pathology, 2001
Hypertyrosinemia encompasses several entities, of which tyrosinemia type I (or hepatorenal tyrosinemia, HT1) results in the most extensive clinical and pathological manifestations involving mainly the liver, kidney, and peripheral nerves. The clinical findings range from a severe hepatopathy of early infancy to chronic liver disease and rickets in the
P A, Russo, G A, Mitchell, R M, Tanguay
openaire +2 more sources
Hypertyrosinemia encompasses several entities, of which tyrosinemia type I (or hepatorenal tyrosinemia, HT1) results in the most extensive clinical and pathological manifestations involving mainly the liver, kidney, and peripheral nerves. The clinical findings range from a severe hepatopathy of early infancy to chronic liver disease and rickets in the
P A, Russo, G A, Mitchell, R M, Tanguay
openaire +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2006
AbstractThe genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. The most severe form of tyrosinemia, Type I, is a devastating disorder of childhood that causes liver failure, painful neurologic crises, rickets, and hepatocarcinoma.
openaire +2 more sources
AbstractThe genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. The most severe form of tyrosinemia, Type I, is a devastating disorder of childhood that causes liver failure, painful neurologic crises, rickets, and hepatocarcinoma.
openaire +2 more sources