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congenital hypothyroidism/tyrosine
L'enllaç es desa al porta-retalls
Pàgina 1 des de 20 resultats
[Congenital hypothyroidism caused by iodo-tyrosine-desiodase deficiency. Clinical, biological and therapeutic study].
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Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria.
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A multiple screening program to establish the frequency of congenital hypothyroidism (CH), phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria and hypertyrosinemia in endemic and sporadic goitrous regions of Italy is being carried out. Valine, methionine, leucine, isoleucine,
Congenital Hypothyroidism
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Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. CH must be diagnosed promptly because delay in treatment can lead to irreversible neurological deficits. Before the newborn screening program, CH was one of the most common preventable causes of intellectual
Identifying quantitative trait loci affecting resistance to congenital hypothyroidism in 129/SvJcl strain mice.
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Tyrosylprotein sulfotransferase 2 (TPST2) is one of the enzymes responsible for tyrosine O-sulfation and catalyzes the sulfation of the specific tyrosine residue of thyroid stimulating hormone receptor (TSHR). Since this modification is indispensable for the activation of TSH signaling, a
[Molecular-genetic aspects of congenital hypothyroidism].
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Congenital hypothyroidism manifests a complex of symptoms caused by a total lack or significant deficiency of thyroxine (T4) and triiodothyronine (T3) in foetal life and in the first years of child's life. The incidence of congenital hypothyroidism is 1 per 3000-4000 newborns in the world and l per
DNA Methylation of the EphA5 Promoter Is Associated with Rat Congenital Hypothyroidism.
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Thyroid hormones (THs) are essential for normal development of the mammalian central nervous system through regulation of TH-responsive genes. EphA5, an important TH-responsive gene encoding the tyrosine kinase receptor EphA5, regulates synaptogenesis initiation and synaptic remodeling during brain
Association of peroxidase enzyme defect and low thyroglobulin content in a case of endemic cretinism.
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Neurological endemic cretinism is highly prevalent in severe endemic goiter areas. Often associated to euthyroid goiter, it is probably related to iodine deficiency. However the exact pathogenetic mechanism is yet unclear. We report the biochemical study of thyroid tissue obtained from a 26 year-old
The utility of FT4 serum in newborns at risk for congenital hypothyroidism (CH).
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Thyrotropin (TSH) stimulates hormonogenesis using the iodate substrate and tyrosine amino acid. After various enzymatic reactions, thyroxine (T4) and triiodothyronine (T3) are released. Part of the hormone freely circulates in serum as free T3 (FT3) and free T4 (FT4). TSH is released after feedback.
A PUBLIC HEALTH PERSPECTIVE ON THE IMPORTANCE OF PLASMA PHENYLALANINE AND TYROSINE DETERMINATION IN RELATION TO NEWBORN SCREENING AND MONITORING OF TREATMENT IN PHENYLKETONURIA.
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Newborn screening of phenylketonuria (PKU) is performed in many countries, including Romania, in addition to screening for congenital hypothyroidism. Patients affected by PKU require frequent measurements of phenylalanine (Phe) level in blood plasma. Such a determination is important not only in
Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.
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BACKGROUND
The recent cloning of the human iodotyrosine deiodinase (IYD) gene enables the investigation of iodotyrosine dehalogenase deficiency, a form a primary hypothyroidism resulting from iodine wasting, at the molecular level.
OBJECTIVE
In the current study, we identify the genetic basis of
Sudden infant death syndrome and placental disorders: the thyroid-selenium link.
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Placental insufficiency, inducing hypoxia-ischaemia, is considered a major cause of neuronal injury and impaired post natal development. Placental insufficiency alters the metabolism of arachidonic acid and its oxidation products. Premature labour and low-birth-weight infants are associated with
Congenital goitre due to "thyroid peroxidase-iodinase defect".
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A 16-year-old male cretin with congenital goitrous hypothyroidism and 95% discharge in the perchlorate test underwent thyroidectomy. Thyroid studies disclosed negligible peroxidase (TPO) activity in the tyrosine iodinase assay, 6 nmoles I- inc./g (normals: 220-410). Using the same particulate
Analysis of hypertrophic thyrotrophs in pituitaries of athyroid Pax8-/- mice.
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Thyroid hormone is important for pituitary development and maintenance. We previously reported that in the Pax8(-/-) mouse model of congenital hypothyroidism, lactotrophs are almost undetectable, whereas the thyrotrophs exhibit hyperplasia and hypertrophy. Because the latter might be caused by an
[What should the paediatrician know about hyperphenylalaninaemia?].
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Hyperphenylalaninaemias are defined by a blood phenylalanine over 2mg/dl. The main cause is due to a mutation in the gene that codes the phenylalanine hydroxylase that catalyses the reaction that converts phenylalanine into tyrosine. The hyperphenylalaninaemias are classified into benign or mild
Role of Iodine in Metabolism.
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The natural resources of iodine are seawater, seaweeds and saltpeter-nitrate deposits in Chile. Over 1/3 of the global population is exposed to iodine deficiency, especially in the mountains. Iodine is a component of the thyroid hormones and a strong antioxidant with electric potential of -0.54 V.
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