পৃষ্ঠা 1 থেকে 184 ফলাফল
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
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
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
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
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
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
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
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
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 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)
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
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