Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
2015 · Genetics in Medicine · 113 citations
https://doi.org/10.1038/gim.2015.108
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Julian Raiman
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Julian Raiman is an academic researcher. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Metabolism and Genetic Disorders & Glycogen Storage Diseases and Myoclonus. The author has an h-index of 33, co-authored 100 publications.
Papers by this author
worksCapturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
2012 · Orphanet Journal of Rare Diseases · 33 citations
https://doi.org/10.1186/1750-1172-7-22
Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study
2017 · Molecular Genetics and Metabolism · 31 citations
https://doi.org/10.1016/j.ymgme.2017.11.015
Coping with pain. Pain relief--a two-way process.
1986 · PubMed · 6 citations
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review
2022 · Molecular Genetics and Metabolism Reports · 6 citations
https://doi.org/10.1016/j.ymgmr.2022.100881
Kaplan-Meier survival curve showing comparison of ventilator-free survival CRIM-negative (CN) ERT monotherapy (n = 11) versus CN ERT+ITI (n = 7) treated patients.
2015 · Figshare · 0 citations
https://doi.org/10.1371/journal.pone.0067052.g005
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