Search Results - "lysosomal storage disorders"

1

Diagnosis and management of lysosomal storage disorders. Three key words: early, multidisciplinary, and network

by Generoso Andria, Giuseppe Limongelli
Published 2013-02-01

Subjects: “...lysosomal storage disorders, diagnosis and management....”

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2

Achievements and beyond: Scientific trajectory of Professor Mohammad A. Rafi

by Yadollah Omidi, Abass Alavi
Published 2021-01-01

Subjects: “...lysosomal storage disorders...”

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3

Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches

by Enrico Moro
Published 2021-06-01

Subjects: “...lysosomal storage disorders...”

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4

Spectrum of Paediatric Lysosomal Storage Disorders in Oman

by Almundher A Al-Maawali, Surendra N Joshi, Roshan L Koul, Ali A Al-Maawali, Hilal S Al-Sedari, Bader M Al-Amri, Amna M Al-Futaisi
Published 2012-08-01

Subjects: “...lysosomal storage disorders...”

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5

Differentiation of norm and pathology during selective biochemical skreening of lysosomal storage diseases with increased excretion of oligosaccharides

by N. Y. Mytsyk, N. V. Olkhovych, N. G. Gorovenko
Published 2015-06-01

Subjects: “...lysosomal storage disorders...”

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6

Molecular Basis of Metachromatic Leukodystrophies

by J Gordon Millichap
Published 1991-02-01

Subjects: “...lysosomal storage disorders...”

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7

Lysosomal Function and Axon Guidance: Is There a Meaningful Liaison?

by Rosa Manzoli, Lorenzo Badenetti, Michela Rubin, Enrico Moro
Published 2021-01-01

Subjects: “...lysosomal storage disorders...”

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8

Fifteen years experience: Egyptian metabolic lab

by Ekram M. Fateen, Amr S. Gouda, Mona M. Ibrahim, Zeinab Y. Abdallah
Published 2014-10-01

Subjects: “...Lysosomal storage disorders...”

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9

Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses

by Rajendra Singh, Shaileja Chopra, Carrie Graham, Melissa Langer, Rainer Ng, Anirudh J. Ullal, Vamsee K. Pamula
Published 2020-05-01

Subjects: “...lysosomal storage disorders...”

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10

Pathogenesis of Mucopolysaccharidoses, an Update

by Simona Fecarotta, Antonietta Tarallo, Carla Damiano, Nadia Minopoli, Giancarlo Parenti
Published 2020-04-01

Subjects: “...lysosomal storage disorders...”

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11

Mitochondrial Dysfunction in Lysosomal Storage Disorders

by Mario de la Mata, David Cotán, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M. Suárez-Rivero, Gustavo Tiscornia, Manuel Oropesa-Ávila
Published 2016-10-01

Subjects: “...lysosomal storage disorders...”

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12

Newborn Screening for Krabbe Disease and Other Lysosomal Storage Disorders: Broad Lessons Learned

by Joseph J. Orsini, Michele Caggana
Published 2017-03-01

Subjects: “...lysosomal storage disorders...”

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13

Generation and Correction of a Novel Mouse Model of Farber Disease

by Alayoubi, Abdulfatah
Published 2012

Subjects: “...Lysosomal Storage Disorders...”

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14

Generation and Correction of a Novel Mouse Model of Farber Disease

by Alayoubi, Abdulfatah
Published 2012

Subjects: “...Lysosomal Storage Disorders...”

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15

Integrated Computational Analysis Highlights unique miRNA Signatures in the Subventricular Zone and Striatum of GM2 Gangliosidosis Animal Models

by Francesco Morena, Vasileios Oikonomou, Chiara Argentati, Martina Bazzucchi, Carla Emiliani, Angela Gritti, Sabata Martino
Published 2019-06-01

Subjects: “...lysosomal storage disorders...”

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16

Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease

by Yanyan Peng, Benjamin Liou, Yi Lin, Venette Fannin, Wujuan Zhang, Ricardo A. Feldman, Kenneth D. R. Setchell, Gregory A. Grabowski, Ying Sun
Published 2021-09-01

Subjects: “...lysosomal storage disorders...”

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