Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease - Wikidata - awgldk - TriplyDB

Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease

Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease

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Canine Models for Copper Homeostasis Disorders Translational research investigations on ATP7A: an important human copper ATPase ATP7A-related copper transport diseases-emerging concepts and future trends Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.Diagnosis of copper transport disorders.L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model Peptidylgycine α-amidating monooxygenase and copper: a gene-nutrient interaction critical to nervous system function.Peptidylglycine α-amidating monooxygenase heterozygosity alters brain copper handling with region specificity.Limbic system pathologies associated with deficiencies and excesses of the trace elements iron, zinc, copper, and selenium.The physical examination as a window into autonomic disorders.Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.Plasma Catechols After Eating Olives.

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Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease

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David S Goldstein

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P2860

Neonatal diagnosis and treatment of Menkes disease

A simple and rapid HPLC-MS method for the simultaneous determination of epinephrine, norepinephrine, dopamine and 5-hydroxytryptamine: application to the secretion of bovine chromaffin cell cultures.

Tyrosine hydroxylase activity is regulated by two distinct dopamine-binding sites.

Tyrosine hydroxylase. Activation by protein phosphorylation and end product inhibition.

Determination of dopamine and methoxycatecholamines in patient urine by liquid chromatography with electrochemical detection and by capillary electrophoresis coupled with spectrophotometry and mass spectrometry.

Analysis of catecholamines and related substances using porous graphitic carbon as separation media in liquid chromatography-tandem mass spectrometry.

Catecholamine metabolism in kinky hair disease.

Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.

Neuronal source of plasma dihydroxyphenylalanine.

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