Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series
Selvanathan, A., Ellaway, C., Wilson, C., Owens, P., Shaw, P. J., Bhattacharya, K.
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature
Loeb, Josefine, Feldt-Rasmussen, Ulla, Madsen, Christoffer Valdorff, Vogel, Asmus
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment
Davison, A. S., Norman, B., Milan, A. M., Hughes, A. T., Khedr, M., Rovensky, J., Gallagher, J. A., Ranganath, L. R.
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients
Ivleva, Alexandra, Weith, Ekaterina, Mehta, Atul, Hughes, Derralynn A.
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years
Kobayashi, Hiroshi, Ariga, Masamichi, Sato, Yohei, Fujiwara, Masako, Fukasawa, Nei, Fukuda, Takahiro, Takahashi, Hiroyuki, Ikegami, Masahiro, Kosuga, Motomichi, Okuyama, Torayuki, Eto, Yoshikatsu, Ida, Hiroyuki
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients
Cox, Gerald F., Clarke, Lorne A., Giugliani, Roberto, McGovern, Margaret M.
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study
Bittel, Adam J., Bohnert, Kathryn L., Reeds, Dominic N., Peterson, Linda R., de las Fuentes, Lisa, Corti, Manuela, Taylor, Carolyn L., Byrne, Barry J., Cade, W. Todd
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease
Stepien, Karolina M., Lum, Su Han, Wraith, J. Edmond, Hendriksz, Christian J., Church, Heather J., Priestman, David, Platt, Frances M., Jones, Simon, Jovanovic, Ana, Wynn, Robert
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone
Davison, A. S., Norman, B. P., Smith, E. A., Devine, J., Usher, J., Hughes, A. T., Khedr, M., Milan, A. M., Gallagher, J. A., Ranganath, L. R.
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features
Langford, Bryony, Besford, Megan, Hall, Aimée, Eddowes, Lucy, Timmis, Oliver, Gallagher, James A., Ranganath, Lakshminarayan
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1
Stepien, Karolina M., Pastores, Gregory M., Hendroff, Una, McCormick, Ciara, Fitzimons, Patricia, Khawaja, Naveed, Borovickova, Ingrid, Treacy, Eileen P.
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing
Zeiger, William A., Jamal, Nasheed I., Scheuner, Maren T., Pittman, Patricia, Raymond, Kimiyo M., Morra, Massimo, Mishra, Shri K.
Published in JIMD reports (01.01.2018)
Published in JIMD reports (01.01.2018)
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Correction to: Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study
Bittel, Adam J., Bohnert, Kathryn L., Reeds, Dominic N., Peterson, Linda R., de las Fuentes, Lisa, Corti, Manuela, Taylor, Carolyn L., Byrne, Barry J., Cade, W. Todd
Published in JIMD Reports, Volume 41 (03.08.2019)
Published in JIMD Reports, Volume 41 (03.08.2019)
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