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Impact of immunoparesis on Gaucher disease (GD): Results from a network relationship analysis of data at diagnosis of the patients included in the Spanish registry of GD by Marcio M. Andrade-Campos; Jorge Perez-Heredia; Laura Lopez de Frutos; Jorge Cebolla Sanz; Maria Blanca Medrano Engay; Mercedes Roca Espiau; Beatriz Gomez-Barrera; David Iniguez is a Medicine article available to read on EtoBox.

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Mucolipidosis type II (MLII) is an ultra-rare lysosomal disorder caused by defective lysosomal enzyme trafficking. Major features are craniofacial dysmorphia, cardiac dysfunction, hepatosplenomegaly, skeletal deformities and neurocognitive retardation. Death usually occurs in the first decade of life, and no cure exists for MLII. Experimental hematopoietic stem cell transplantation (HSCT) has been performed in few MLII patients, but detailed follow-up data including neurocognitive outcome are extremely scarce. A 9month-old female patient with MLII received HSCT from a human leukocyte antigen (HLA)-matched unrelated donor. The clinical outcome was summarized 5.5 years after HSCT. Neurocognitive testing was performed with Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III), and Vineland Adaptive Behavior Scales, Second Edition (VABS-II). At age 6 years, the patient presents a history of respiratory infections, however, no record of hospitalizations. Diagnostics showed normal cardiac function, partial respiratory insufficiency and moderate hepatomegaly. Skeletal manifestations have progressed and growth has ceased at a body length of 75 cm. The patient has develo

Who reads Impact of immunoparesis on Gaucher disease (GD): Results from a network relationship analysis of data at diagnosis of the patients included in the Spanish registry of GD?

Author

Marcio M. Andrade-Campos; Jorge Perez-Heredia; Laura Lopez de Frutos; Jorge Cebolla Sanz; Maria Blanca Medrano Engay; Mercedes Roca Espiau; Beatriz Gomez-Barrera; David Iniguez

Publisher

Elsevier Science; Elsevier ; Elsevier Inc.; Elsevier BV (ISSN 1096-7192)

Published

2020

Language

EN

Field

Medicine (Health Sciences)