Search Results - "lysosomal storage disease"

61

Bone Marrow Transplantation Alters the Tremor Phenotype in the Murine Model of Globoid-Cell Leukodystrophy

by Adarsh S. Reddy, David F. Wozniak, Nuri B. Farber, Joshua T. Dearborn, Stephen C. Fowler, Mark S. Sands
Published 2012-01-01

Subjects: “...lysosomal storage disease...”

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62

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder

by Aiza Khan, Consolato Sergi
Published 2018-04-01

Subjects: “...lysosomal storage disease...”

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63

Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)–A Personal View

by Alfried Kohlschütter
Published 2021-06-01

Subjects: “...lysosomal storage disease...”

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64

Second-Generation Pharmacological Chaperones: Beyond Inhibitors

by My Lan Tran, Yves Génisson, Stéphanie Ballereau, Cécile Dehoux
Published 2020-07-01

Subjects: “...lysosomal storage disease...”

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65

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings

by Kei Mizobuchi, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Toshiaki Tachibana, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
Published 2020-08-01

Subjects: “...lysosomal storage disease...”

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66

7T MRI Predicts Amelioration of Neurodegeneration in the Brain after AAV Gene Therapy

by Heather L. Gray-Edwards, Anne S. Maguire, Nouha Salibi, Lauren E. Ellis, Taylor L. Voss, Elise B. Diffie, Jey Koehler, Ashley N. Randle, Amanda R. Taylor, Brandon L. Brunson, Thomas S. Denney, Ronald J. Beyers, Atoska S. Gentry, Amanda L. Gross, Ana R. Batista, Miguel Sena-Esteves, Douglas R. Martin
Published 2020-06-01

Subjects: “...lysosomal storage disease...”

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67

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

by Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek
Published 2020-04-01

Subjects: “...Lysosomal storage disease...”

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68

A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)

by Elin Haf Davies, Jean Johnston, Camilo Toro, Cynthia J. Tifft
Published 2020-08-01

Subjects: “...Mobile health, lysosomal storage disease...”

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69

A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis

by Julien Guevar, Petra Hug, Felix Giebels, Alexane Durand, Vidhya Jagannathan, Tosso Leeb
Published 2020-01-01

Subjects: “...lysosomal storage disease...”

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70

Bridging the Gap Between Vessels and Nerves in Fabry Disease

by Julia Forstenpointner, Manon Sendel, Paul Moeller, Maren Reimer, Sima Canaan-Kühl, Jens Gaedeke, Stefanie Rehm, Philipp Hüllemann, Janne Gierthmühlen, Ralf Baron
Published 2020-06-01

Subjects: “...lysosomal storage disease...”

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71

Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire

by Magdalena Harrington, Asha Hareendran, Anne Skalicky, Hilary Wilson, Marci Clark, Jaromir Mikl
Published 2019-07-01

Subjects: “...Lysosomal storage disease...”

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72

Modelling of Neuronal Ceroid Lipofuscinosis Type 2 in <i>Dictyostelium discoideum</i> Suggests That Cytopathological Outcomes Result from Altered TOR Signalling

by Paige K. Smith, Melodi G. Sen, Paul R. Fisher, Sarah J. Annesley
Published 2019-05-01

Subjects: “...lysosomal storage disease...”

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73

Bilateral carpal tunnel syndrome and multiple trigger fingers in a child with mucolipidosis Type III disease

by Ahmadreza Afshar
Published 2011-01-01

Subjects: “...lysosomal storage disease...”

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74

Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI

by Elizabeth G. Ames, Rachel Fisher, Mary Kleyn, Ayesha Ahmad
Published 2020-09-01

Subjects: “...Lysosomal storage disease...”

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75

A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)

by Ping Wang, Hamutal Mazrier, Jessica Caverly Rae, Karthik Raj, Urs Giger
Published 2018-12-01

Subjects: “...Lysosomal storage disease...”

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76

Serum hexosaminidase and ß-glucuronidase activities in infants: effects of age and sex

by P. Mabe, M. Beck
Published 2003-03-01

Subjects: “...Lysosomal storage disease...”

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77

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene

by Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R. Morales, Grant A. Mitchell, Alexey V. Pshezhetsky
Published 2017-06-01

Subjects: “...Lysosomal storage disease...”

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78

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

by Gerben J. Schaaf, Tom J. M. van Gestel, Stijn L. M. in ‘t Groen, Bart de Jong, Björn Boomaars, Antonietta Tarallo, Monica Cardone, Giancarlo Parenti, Ans T. van der Ploeg, W. W. M. Pim Pijnappel
Published 2018-11-01

Subjects: “...Lysosomal storage disease...”

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79