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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harborExpand
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A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population
Hyperphenylalaninemia (HPA) is a group of diseases characterized by a persistent elevation of phenylalanine levels in tissues and biological fluids. The most frequent form is phenylalanineExpand
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Peptidase-deficient mutants of Escherichia coli.
Mutant derivatives of Escherichia coli K-12 deficient in several peptidases have been obtained. Mutants lacking a naphthylamidase, peptidase N, were isolated by screening for colonies unable toExpand
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Wear, creep, and frictional heating of femoral implant articulating surfaces and the effect on long-term performance--Part II, Friction, heating, and torque.
In Part I, (J.A. Davidson and G. Schwartz, "Wear, creep, and frictional heating of femoral implant articulating surfaces and the effect on long-term performance--Part I, A review," J. Biomed. Mater.Expand
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Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene
AbstractThe aims of our research were to define the genotype–phenotype correlations of mutations in the phenylalanine hydroxylase (PAH) gene that cause phenylketonuria (PKU) among the IsraeliExpand
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A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in North African Jews with phenylketonuria
The majority of hyperphenylalaninemias (HPAs) result from mutations at the gene for phenylalanine hydroxylase (PAH). The broad phenotypic variability of these conditions, ranging from phenylketonuriaExpand
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A single origin of phenylketonuria in Yemenite Jews
PHENYLKETONURIA (PKU) is a metabolic disease caused by recessive mutations of the gene encoding the hepatic enzyme phenylalanine hydroxylase (PAH). The incidence of PKU varies widely across differentExpand
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Wear, creep, and frictional heat of femoral implant articulating surfaces and the effect on long-term performance--Part I, A review.
Creep and wear of articulating reconstructed joints is a complex process, resulting in adverse tissue response, decreased range of motion, and eventual revision. As improvements are made in theExpand
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Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.
Phenylketonuria (PKU) and benign hyperphenylalaninaemia (HPA) result from a variety of mutations in the gene for the hepatic enzyme phenylalanine hydroxylase. PKU has been found in the IsraeliExpand
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