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  1. 1
    Gaucher disease mouse models: point mutations at the acid β-glucosidase locus combined with low-level prosaposin expression lead to disease variants
    Subjects: “...lysosomal storage disease...”
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  2. 2
    A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I
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  3. 3
    Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience
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  4. 4
    Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases?
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  5. 5
    Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease
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  6. 6
    Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses
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  7. 7
    Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
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  8. 8
    AAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains
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  9. 9
    Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
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  10. 10
    Adult Onset Familial Cherry-Red Spot Myoclonus
    by Chi Kyung Kim, Beom S. Jeon
    Published 2009-05-01
    Subjects: “...Lysosomal storage disease...”
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  11. 11
    Ipomoea brasiliana poisoning on buck reproduction
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  12. 12
    Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases
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  13. 13
    Potential Treatment of Lysosomal Storage Disease through Modulation of the Mitochondrial–Lysosomal Axis
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  14. 14
    Galactosialidosis Type IIb with Bilateral Macular Cherry-Red Spots but Mild Dysfunction
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  15. 15
    Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC
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  16. 16
    Oral Health Status of Patients with Lysosomal Storage Diseases in Poland
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  17. 17
    False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor
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  18. 18
    Hemichannels in neurodegenerative diseases: is there a link to pathology?
    by Megan eBosch, Tammy eKielian
    Published 2014-08-01
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  19. 19
    Splenomegaly as a Primary Manifestation of Gaucher Disease in a Young Adult Woman
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  20. 20
    A model of mucopolysaccharidosis type IIIB in pigs
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