Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. - Wikidata - wikimedia - TriplyDB

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

http://www.wikidata.org/entity/Q33344059

about

Atypical hemolytic uremic syndrome Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.Atypical Hemolytic Uremic Syndrome and Chronic Ulcerative Colitis Treated with Eculizumab.Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.Hydroxocobalamin dose escalation improves metabolic control in cblC.Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.Hemolysis and hyperhomocysteinemia caused by cobalamin deficiency: three case reports and review of the literature.Ophthalmic 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.Treatment of cobalamin C (cblC) deficiency during pregnancy.Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.At the Cross Section of Thrombotic Microangiopathy and Atypical Hemolytic Uremic Syndrome: A Narrative Review of Differential Diagnostics and a Problematization of Nomenclature.Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.The role of von Willebrand factor in thrombotic microangiopathy.Clinical analysis of late-onset methylmalonic acidaemia and homocystinuria, cblC type with a neuropsychiatric presentation.Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

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Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

http://www.wikidata.org/entity/Q33344059

description

2002 nî lūn-bûn

@nan

2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2002年の論文

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2002年論文

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2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

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2002年論文

@zh-tw

2002年论文

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name

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

@ast

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

@en

type

label

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

@ast

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

@en

prefLabel

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

@ast

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

@en

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American Journal of Medical Genetics Part A

P1476

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

@en

P2093

Boudewijn Van Damme

http://www.w3.org/2001/XMLSchema#string

Brian Fowler

http://www.w3.org/2001/XMLSchema#string

E Regula Baumgartner

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Heidi Peters

http://www.w3.org/2001/XMLSchema#string

Jean-Pierre Fryns

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Johan L K Van Hove

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Jozef Arnout

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Rita Van Damme-Lombaerts

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Stephanie Grünewald

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P2860

Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura

Heterogeneity of atypical haemolytic uraemic syndromes

The haemolytic-uraemic syndrome in childhood.

Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency.

Cobalamin C defect associated with hemolytic-uremic syndrome.

von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome.

Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).

Post- and prenatal diagnostic methods for the homocystinurias.

A congenital anomaly of vitamin B12 metabolism: a study of three cases.

Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type).

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195-201

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scholarly article

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10.1002/AJMG.10499

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2

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111

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2002-08-01T00:00:00Z

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12210350

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