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1
A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease
Published 2016-09-01Subjects: Get full text
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2
Hurler Syndrome: a Biochemically Confirmed Case in Dominican Republic
Published 2023-03-01Subjects: Get full text
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3
Fabry Cardiomyopathy: Current Practice and Future Directions
Published 2021-06-01Subjects: Get full text
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4
Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports
Published 2015-02-01Subjects: Get full text
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5
Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells
Published 2010-09-01Subjects: Get full text
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6
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel
Published 2021-09-01Subjects: “…Lysosomal storage disorder…”
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7
A Personal History of Cystinosis by Dr. Jerry Schneider
Published 2022-03-01Subjects: Get full text
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8
Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV
Published 2022-02-01Subjects: “…lysosomal storage disorder…”
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9
Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis
Published 2015-01-01Subjects: Get full text
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10
Perinatal-lethal Gaucher disease presenting as hydrops fetalis
Published 2015-06-01Subjects: Get full text
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11
Fabry disease: An overlooked diagnosis in adult cardiac patients
Published 2017-09-01Subjects: Get full text
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12
Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy
Published 2020-12-01Subjects: Get full text
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13
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA
Published 2018-04-01Subjects: Get full text
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14
Mass spectrometry imaging and LC/MS reveal decreased cerebellar phosphoinositides in Niemann-Pick type C1-null mice[S]
Published 2020-07-01Subjects: Get full text
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15
A very rare cause of protein losing enteropathy: Gaucher disease
Published 2021-08-01Subjects: “…enzyme replacement therapy; lymphadenopathy; lysosomal storage disorder; Gaucher disease…”
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16
Age-related neuroimmune signatures in dorsal root ganglia of a Fabry disease mouse model
Published 2023-05-01Subjects: “…Lysosomal storage disorder…”
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18
Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA
Published 2023-09-01Subjects: Get full text
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19
mTOR hyperactivity mediates lysosomal dysfunction in Gaucher's disease iPSC-neuronal cells
Published 2019-10-01Subjects: “…lysosomal storage disorder…”
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20
Differential accumulation of storage bodies with aging defines discrete subsets of microglia in the healthy brain
Published 2020-06-01Subjects: Get full text
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