Hydroxylase
Mostrando 1-12 de 1244 artigos, teses e dissertações.
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1. Classic and current concepts in adrenal steroidogenesis: a reappraisal
ABSTRACT Adrenal steroid biosynthesis and its related pathology are constant evolving disciplines. In this paper, we review classic and current concepts of adrenal steroidogenesis, plus control mechanisms of steroid pathways, distribution of unique enzymes and cofactors, and major steroid families. We highlight the presence of a “mineralocorticoid (MC) pat
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. Vitamin D metabolism and extraskeletal outcomes: an update
ABSTRACT Vitamin D deficiency is a general health problem affecting individuals at all stages of life and on different continents. The musculoskeletal effects of vitamin D are well known. Its deficiency causes rickets, osteomalacia, and secondary hyperparathyroidism and increases the risk of fractures. Clinical and experimental evidence suggests that vitamin
Archives of Endocrinology and Metabolism. Publicado em: 2022
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3. Corrigendum
Objective: We investigated whether single nucleotide polymorphisms (SNPs) associated with neuroplasticity and activity of monoamine neurotransmitters, such as the brain-derived neurotrophic factor (BDNF, rs6265), the serotonin transporter (SLC6A4, rs25531), the tryptophan hydroxylase 1 (TPH1, rs1800532), the 5-hydroxytryptamine receptor 2A (HTR2A, rs6311, r
Braz. J. Psychiatry. Publicado em: 2020-04
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4. Cannabidiol in Parkinson’s disease
Objective: We investigated whether single nucleotide polymorphisms (SNPs) associated with neuroplasticity and activity of monoamine neurotransmitters, such as the brain-derived neurotrophic factor (BDNF, rs6265), the serotonin transporter (SLC6A4, rs25531), the tryptophan hydroxylase 1 (TPH1, rs1800532), the 5-hydroxytryptamine receptor 2A (HTR2A, rs6311, r
Braz. J. Psychiatry. Publicado em: 2020-04
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5. Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial
Objective: We investigated whether single nucleotide polymorphisms (SNPs) associated with neuroplasticity and activity of monoamine neurotransmitters, such as the brain-derived neurotrophic factor (BDNF, rs6265), the serotonin transporter (SLC6A4, rs25531), the tryptophan hydroxylase 1 (TPH1, rs1800532), the 5-hydroxytryptamine receptor 2A (HTR2A, rs6311, r
Braz. J. Psychiatry. Publicado em: 2020-04
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6. Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
Abstract Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes). Fifty-four different pathogenic variants were identified. Mutations were distributed all along the PAH gene but
J. inborn errors metab. screen.. Publicado em: 20/12/2019
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7. Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial
Objective: We investigated whether single nucleotide polymorphisms (SNPs) associated with neuroplasticity and activity of monoamine neurotransmitters, such as the brain-derived neurotrophic factor (BDNF, rs6265), the serotonin transporter (SLC6A4, rs25531), the tryptophan hydroxylase 1 (TPH1, rs1800532), the 5-hydroxytryptamine receptor 2A (HTR2A, rs6311, r
Braz. J. Psychiatry. Publicado em: 11/11/2019
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8. Isolation and characterization of hydrocarbon-degrading bacteria from gas station leaking-contaminated groundwater in the Southern Amazon, Brazil
Resumo Vinte e três linhagens bacterianas degradadoras de hidrocarbonetos foram isoladas de água subterrânea contaminada por vazamento em posto de combustível no sul da Amazônia, Brasil. Com base na habilidade de degradar hidrocarbonetos (diesel, hexadecano, benzeno, tolueno e xileno), duas linhagens foram selecionadas para estudos posteriores. A amplif
Braz. J. Biol.. Publicado em: 05/08/2019
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9. Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals
Abstract Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr). Here we aimed to examine the metabolism of Phe and Tyr in heterozygotes for PKU during fasting and after oral overload of Phe (25 mg/kg). Plasma concentrati
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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10. Adherence to Treatment of Phenylketonuria: A Study in Southern Brazilian Patients
Abstract Introduction: Phenylketonuria (PKU) is caused by the deficient activity of phenylalanine hydroxylase. Aim: To identify the factors associated with treatment adherence among patients with PKU seen at a southern Brazil reference center. Methodology: A cross-sectional, outpatient-based study including 56 patients with PKU (median age, 12 years) for
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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11. Conventional Phenylketonuria Treatment
Abstract Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydroxylase, which results in high Phe blood concentration, which is toxic to the central nervous system. The fundamental purpose of nutritional treatment is to reduce and maintain blood Phe between 2 mg/dL (120 µmol/L) and 6 mg/dL (360 µmol/L) in order to preven
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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12. Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic
Abstract Nearly half of all patients diagnosed with phenylalanine hydroxylase (PAH) deficiency, also known as phenylketonuria, are lost to follow-up (LTFU); most are adults who stopped attending clinic after the age of 18 years. To understand why adult patients with PAH deficiency disengage from their clinic, a focus group of 8 adults with PAH deficiency who
J. inborn errors metab. screen.. Publicado em: 16/05/2019