Successful intrauterine treatment of a patient with cobalamin C defect.

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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.

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P2860

Successful intrauterine treatment of a patient with cobalamin C defect.

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http://www.wikidata.org/entity/Q36680773

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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name

Successful intrauterine treatment of a patient with cobalamin C defect.

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Successful intrauterine treatment of a patient with cobalamin C defect.

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type

Item

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Successful intrauterine treatment of a patient with cobalamin C defect.

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Successful intrauterine treatment of a patient with cobalamin C defect.

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Successful intrauterine treatment of a patient with cobalamin C defect.

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Successful intrauterine treatment of a patient with cobalamin C defect.

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P1476

Successful intrauterine treatment of a patient with cobalamin C defect

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P2093

Brian Fowler

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Dagmar Scheible

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Dorothea Haas

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Friedrich K Trefz

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Georg Frauendienst-Egger

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Terttu Suomala

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P2860

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Hydroxocobalamin dose escalation improves metabolic control in cblC.

Cobalamin C defect: natural history, pathophysiology, and treatment.

CblC/D defect combined with haemodynamically highly relevant VSD.

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

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55-59

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scholarly article

P356

10.1016/J.YMGMR.2016.01.005

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Matthias R Baumgartner

Martina Huemer

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2016-02-04T00:00:00Z

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27014578

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4789385

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Successful intrauterine treatment of a patient with cobalamin C defect.

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P2860

P2860

Successful intrauterine treatment of a patient with cobalamin C defect.

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P2093

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