Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
about
Inhibition of protein translation by the DISC1-Boymaw fusion gene from a Scottish family with major psychiatric disorders.A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II.Membrane-bound CYB5R3 is a common effector of nutritional and oxidative stress response through FOXO3a and Nrf2.Human cytochrome b5 reductase: structure, function, and potential applications.Molecular basis of two novel mutations found in type I methemoglobinemia.A novel mutation in type II methemoglobinemia.Structure Guided Chemical Modifications of Propylthiouracil Reveal Novel Small Molecule Inhibitors of Cytochrome b5 Reductase 3 That Increase Nitric Oxide Bioavailability.Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy.Quantitative Systems Pharmacology Model of NO Metabolome and Methemoglobin Following Long-Term Infusion of Sodium Nitrite in HumansPhotoinitiated singlet and triplet electron transfer across a redesigned [myoglobin, cytochrome b5] interface.Neurometabolic disorder with microcephaly, dystonia, and central cyanosis masquerading as cerebral palsy.Rare Case of Methemoglobinemia Complicating Pregnancy.The Role of Preoperative Evaluation for Congenital Methemoglobinemia.Cytochrome b5 Reductase 3 Modulates Soluble Guanylate Cyclase Redox State and cGMP Signaling.High expression of cytochrome b 5 reductase isoform 3/cytochrome b 5 system in the cerebellum and pyramidal neurons of adult rat brain.Congenital methemoglobinemia type II in a 5-year-old boy.Congenital Methemoglobinemia Type II-Clinical Improvement with Short-Term Methylene Blue Treatment.Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
P2860
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P2860
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 17 January 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
@en
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
@nl
type
label
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
@en
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
@nl
prefLabel
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
@en
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
@nl
P2093
P356
P1433
P1476
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
@en
P2093
A Roubergue
C Ewenczyk
J M Saudubray
M Vidailhet
P Beauvais
T Billette de Villemeur
P304
P356
10.1093/BRAIN/AWM337
P407
P577
2008-01-17T00:00:00Z