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Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S148 - S148
Journal Article
American Journal of Hematology, ISSN 0361-8609, 07/2015, Volume 90, Issue 1, pp. S19 - S24
Following the treatment of the first Gaucher disease patient with enzyme replacement therapy (ERT), it was clear that ERT had the potential to be... 
GLUCOCEREBROSIDASE | EFFICACY | ADULTS | PATIENT | QUALITY-OF-LIFE | TYPE-1 | HEMATOLOGY | ENZYME REPLACEMENT THERAPY | IMIGLUCERASE | REGISTRY | CHILDREN | Enzyme Replacement Therapy | Registries | Treatment Outcome | Humans | Gaucher Disease - drug therapy | Gaucher Disease - enzymology | Enzymes
Journal Article
Genetics in Medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 459 - 463
Purpose: To examine results of magnetic resonance imaging (MRI), polysomnograms (PSG), and patient outcomes in patients with achondroplasia in light of recent... 
Achondroplasia | Central apnea | Cervical cord compression | Foramen magnum stenosis | Sudden death | MORTALITY | HEALTH SUPERVISION | UNEXPECTED DEATH | CHILDREN | ANESTHESIA | GENETICS & HEREDITY | DECOMPRESSION | COMPLICATIONS | COHORT | CERVICOMEDULLARY-JUNCTION COMPRESSION
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S140 - S140
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2019, Volume 126, Issue 2, pp. S80 - S80
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2016, Volume 18, Issue 12, pp. 1214 - 1217
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2019, Volume 23, Issue 4, pp. e36 - e36
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2015, Volume 52, Issue 12, pp. 860 - 866
Journal Article
Hormone Research in Paediatrics, ISSN 1663-2818, 08/2016, Volume 86, Issue 1, pp. 35 - 38
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, p. e67052
Journal Article