High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.

Item
http://www.wikidata.org/entity/Q35004125
Adolescent BMI at Northern Israel: From Trends, to Associated Variables and Comorbidities, and to Medical Signatures.A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.Inborn errors of cobalamin absorption and metabolism.Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variantsCombined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiencyNoncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C diseaseNoncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease: Response to letter "Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birth" by J. Finsterer and Claudia StöllbergerOphthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Cobalamin C defect: natural history, pathophysiology, and treatment.Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.To ascertain the utility of urinary methyl malonic Acid as a potential marker of ischemic heart failure.Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.Clinical presentation and outcome in a series of 88 patients with the cblC defect.Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report
P2860

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.

Item
http://www.wikidata.org/entity/Q35004125
description
2009 nî lūn-bûn
@nan
2009 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
High prevalence of structural ...... c aciduria and homocystinuria.
@ast
High prevalence of structural ...... c aciduria and homocystinuria.
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type
label
High prevalence of structural ...... c aciduria and homocystinuria.
@ast
High prevalence of structural ...... c aciduria and homocystinuria.
@en
prefLabel
High prevalence of structural ...... c aciduria and homocystinuria.
@ast
High prevalence of structural ...... c aciduria and homocystinuria.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
High prevalence of structural ...... c aciduria and homocystinuria.
@en
P2093
P304
P31
P356
10.1016/J.YMGME.2009.07.017
P433
P478
P577
P698