Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or X‐linked disorders. Parenteral hydroxocobalamin (P‐OHCbl) is the mainstay of therapy, but the optimal dose has not been determined. Despite early treatment, long‐term complications may develop. We have analyzed...

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Bibliografski detalji
Izdano u:JIMD Rep
Glavni autori: Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, van Gassen, Koen L. I., van den Heuvel, L. Bert, De Meirleir, Linda
Format: Artigo
Jezik:Inglês
Izdano: John Wiley & Sons, Inc. 2019
Teme:
Research Reports
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6718108/
https://ncbi.nlm.nih.gov/pubmed/31497484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12055
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