Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
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Title
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
Authors
Keywords
Vitamin B12, Cobalamin, Psychiatric disorder, Myelopathy, Funicular myelosis, Haemolytic uraemic syndrome, Thrombosis, Pulmonary artery hypertension
Journal
Orphanet Journal of Rare Diseases
Volume 9, Issue 1, Pages -
Publisher
Springer Nature
Online
2014-11-15
DOI
10.1186/s13023-014-0161-1
References
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- Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type
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- Clinical Practice Guidelines for the management of atypical Haemolytic Uraemic Syndrome in the United Kingdom
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- Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)
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- Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type
- (2008) Célia Nogueira et al. MOLECULAR GENETICS AND METABOLISM
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