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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718108/
https://www.ncbi.nlm.nih.gov/pubmed/31497484
http://dx.doi.org/10.1002/jmd2.12055

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