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indian/tyrosine

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An Indian Family with Tyrosine Hydroxylase Deficiency.

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BACKGROUND Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder. UNASSIGNED An Indian family with the disorder. METHODS Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness. UNASSIGNED Tyrosine Hydroxylase deficiency is a treatable

Phenylketonuria in Indian children.

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Three untreated phenylketonuric Indian children aged respectively 3 1/2 years, 1 1/2 years and 1 year showed rapid neurological deterioration. Plasma, cerebrospinal fluid and urine phenylalanine concentrations were significantly raised and the phenylalanine-tyrosine ratio was high. Analysis of a

Clinical experience with gefitinib in Indian patients.

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BACKGROUND Treatment options are limited in patients with advanced or refractory non-small cell lung cancer and lead to suboptimal outcome and/or benefit. The epidermal growth factor tyrosine kinase inhibitor gefitinib (IRESSA) has been approved in many countries. Increased responsiveness to

The daily phenylalanine requirement of healthy Indian adults.

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BACKGROUND The daily requirement for phenylalanine is not known with certainty. Earlier 24-h tracer studies have suggested that the requirement is between 30 and 40 mg . kg(-1) . d(-1). OBJECTIVE The objective was to assess the phenylalanine requirement in healthy well-nourished Indians with the use

Experience with the Use of Nilotinib in Indian Patients.

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Important genetic and ethnic factors could affect the toxicity and efficacy of tyrosine kinase inhibitors. Though nilotinib has been available in India since 2010, there is no report on its safety and toxicity from Indian patients with chronic myeloid leukemia. This is an analysis of efficacy and

Dasatinib in chronic myeloid leukemia: a limited Indian experience.

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OBJECTIVE To report our experience of the use of dasatinib in various phases of chronic myeloid leukemia (CML). METHODS Ten patients in various phases of CML, not responding to imatinib and started on dasatinib, were included and analyzed. The baseline characteristics of the patients and their

Nutritional and antinutritional characteristics of seven South Indian wild legumes.

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Seeds from seven species of wild legumes of the South India were analyzed for proximate composition, mineral profiles, amino acid profiles of total seed protein, in vitro protein digestibility, and certain antinutritional factors to assess their potential as alternative sources of protein crops. The

Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene polymorphism in pulmonary tuberculosis in the Indian population.

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A variant of the protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene is known to be associated with susceptibility to autoimmune diseases and bacterial infections as it acts as an important regulator of T-cell activation. The objective of this study was to evaluate whether PTPN22-C1858T

Effect of modification of tyrosine residues in cytotoxin-1 from Indian cobra venom. (Naja naja naja).

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The role of tyrosine residues in the biological activity of cytotoxin-1 was evaluated using N-bromo succinimide. N-bromo succinimide effected the oxidation of tyrosine residues in cytotoxin-1 with an increase in absorption at 260 nm. N-chloro succinimide was ineffective in the oxidation of tyrosine

Tyrosine hydroxylase deficiency-Clinical insights and a novel deletion in TH gene in an Indian patient.

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Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmission. Fewer than 100 cases have been reported so far. We present a case of a 10-month-old infant who was symptomatic since 5 months of age and who received an initial diagnosis of infantile tremor
This study was aimed to assess the association of Protein tyrosine phosphatase non-receptor22 (PTPN22) gene single nucleotide polymorphisms (SNPs) with rheumatic heart disease (RHD) susceptibility in 400 RHD patients and 300 controls. The PTPN22 polymorphisms (rs2476601, rs1217406 and rs3789609)

Chemical modification of tyrosine residue in "toxin B" from the venom of the Indian cobra, Naja naja.

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Lack of IRS-1 codon 513 and 972 polymorphism in Pima Indians.

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Insulin receptor substrate-1 (IRS-1), an endogenous substrate for the insulin receptor tyrosine kinase, mediates many or all of the metabolic actions of insulin. Recently, polymorphism at codons 513 and 972 of the IRS-1 gene resulting in 2 amino acid substitutions that were associated with type II
Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase non-receptor (LYP, PTPN22) gene has been reported to be associated with several autoimmune disorders including Graves' disease, type 1 diabetes, rheumatoid arthritis and vitiligo. The present study was

Dopaminergic pathway gene polymorphisms and genetic susceptibility to schizophrenia among north Indians.

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OBJECTIVE Understanding the etiology and pathogenesis of schizophrenia has been difficult due to the complex inheritance patterns, genetic heterogeneity and varied multiple nonlinear interactions between genes. Several lines of evidence indicate the involvement of neurotransmitter dopamine in the
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