Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Item
http://www.wikidata.org/entity/Q37547501
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.Treatable inherited rare movement disorders.Enzyme replacement therapy prevents loss of bone and fat mass in murine homocystinuria.CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.Is homocystinuria a real challenge for anesthetist? Are we making a difference?Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.Isolated aortic root dilation in homocystinuria.Poorly Controlled Homocystinuria: A Rare Cause of Ischemic Priapism?Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases.Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management.Hydrogen sulfide pathway and skeletal muscle: an introductory review.Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.Bone health in patients with inborn errors of metabolismImpact of pregnancy on inborn errors of metabolism
P2860

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Item
http://www.wikidata.org/entity/Q37547501
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 24 October 2016
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
@en
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
@nl
type
label
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
@en
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
@nl
prefLabel
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
@en
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
@nl
P1433
P1476
P2093
P275
P2860
P2888
P304
P31
P356
P433
P478
P50
P5008
P577
P698
P921
P932
P356
P1433
P1476
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
@en
P2093
P275
P2860
P2888
P304
P31
P356
P433
P478
P50
P5008
P577
P698
P921
P932