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

Autor: Vincent Schlesser, Christine Geron, Ronit Chafai, L Bert van den Heuvel, Hilde Laeremans, Emmanuel Scalais, Patricia Borde, Elise Osterheld, Koen L I van Gassen, Linda De Meirleir, Luc Regal, Charlotte Pierron

Publikováno v: JIMD Reports, Vol 49, Iss 1, Pp 70-79 (2019)
JIMD Reports
JIMD reports, 49 (1
Jimd Reports, 49, 70-79
JIMD Reports, 49(1), 70. Springer Berlin
Jimd Reports, 49, 1, pp. 70-79

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, lon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caf1f8e59a2af10eb6b3076d7eeef14e
https://doaj.org/article/4a6dd49a31ed48feb1180e64c196c0f3