Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Authors: Nathalie M. Vandevelde, Pieter Vermeersch, Katrien M. J. Devreese, Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, Carolien Bonroy, Hedwig Stepman, Geert A. Martens, Xavier Bossuyt, Laurence Roosens, Julie Smet, Hilde Laeremans, Ilse Weets, Jean-Marc Minon, Kris Vernelen, Wim Coucke, Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)

Subject Terms: Rare diseases, Clinical pathology, Financing, Reference laboratories, Reimbursement codes, Expertise, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/2dc4256c7b404443ba1a0495f3f1c794

Inter‐laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples

Authors: Hilde Laeremans, Charles Turner, Tommy Andersson, Jose Angel Cocho deJuan, Adam Gerrard, M. Rebecca Heiner‐Fokkema, Diran Herebian, Nils Janzen, Giancarlo laMarca, Mattias Rudebeck

Source: JIMD Reports, Vol 53, Iss 1, Pp 90-102 (2020)

Subject Terms: dried blood spot, hereditary tyrosinemia type 1, nitisinone, succinylacetone, tandem mass spectrometry, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/6009c65edbbf49f4820c0f103370be32

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

Authors: Emmanuel Scalais, Elise Osterheld, Christine Geron, Charlotte Pierron, Ronit Chafai, Vincent Schlesser, Patricia Borde, Luc Regal, Hilde Laeremans, Koen L. I. vanGassen, L. Bert van denHeuvel, Linda De Meirleir

Source: JIMD Reports, Vol 49, Iss 1, Pp 70-79 (2019)

Subject Terms: early onset cobalamin metabolism defects, hemolytic‐uremic syndrome, homocysteine, methylmalonic aciduria, methylmalonic aciduria with homocystinuria, parenteral hydroxocobalamin dose intensification, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/4a6dd49a31ed48feb1180e64c196c0f3