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Malicdan, May Christine V.
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1

Advancing free sialic acid storage (FSASD) disorder disease..:

Sabir, Marya S. ; Jovanovic, Vukasin M. ; Pollard, Laura...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108023 , 2024
Link: https://doi.org/10.1016/..
 
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2

Investigating the role ofin myelination and neurodegenerati..:

Hossain, Mahin ; Sabir, Marya S. ; Hackbarth, Mary E....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107885 , 2024
Link: https://doi.org/10.1016/..
 
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3

Role of lysosomal trafficking regulator in autophagic lysos..:

Sharma, Prashant ; Serra-Vinardell, Jenny ; Introne, Wendy J..
Neural Regeneration Research.  19 (2023)  5 - p. 957-958 , 2023
Link: https://doi.org/10.4103/..
 
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4

In vitro and in vivo pharmacokinetic characterization, chir..:

Padilha, Elias C. ; Yang, Mengbi ; Shah, Pranav...
Biomedicine & Pharmacotherapy.  168 (2023)  - p. 115178 , 2023
Link: https://doi.org/10.1016/..
 
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5

Clinical, genetic, and structural characterization of a nov..:

McFadden, Jason R. ; Tolete, Christina Deanne P. ; Huang, Yan...
Molecular Genetics and Metabolism Reports.  36 (2023)  - p. 100990 , 2023
Link: https://doi.org/10.1016/..
 
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6

MYH2-associated myopathy caused by a novel splice-site vari..:

Cassini, Thomas A. ; Malicdan, May Christine V. ; Macnamara, Ellen F....
Neuromuscular Disorders.  33 (2023)  3 - p. 257-262 , 2023
Link: https://doi.org/10.1016/..
 
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7

LYST deficiency impairs autophagic lysosome reformation in ..:

Serra-Vinardell, Jenny ; Sandler, Maxwell B. ; De Pace, Raffaella...
Cellular and Molecular Life Sciences.  80 (2023)  2 - p. , 2023
Link: https://doi.org/10.1007/..
 
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8

cDNA sequencing increases the molecular diagnostic yield in..:

Kuptanon, Chulaluk ; Morimoto, Marie ; Nicoli, Elena-Raluca...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

Correction: LYST deficiency impairs autophagic lysosome ref..:

Serra-Vinardell, Jenny ; Sandler, Maxwell B. ; De Pace, Raffaella...
Cellular and Molecular Life Sciences.  80 (2023)  3 - p. , 2023
Link: https://doi.org/10.1007/..
 
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10

Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibro..:

Nieto-Alamilla, Gustavo ; Behan, Molly ; Hossain, Mahin..
Molecular Genetics and Metabolism.  137 (2022)  1-2 - p. 187-191 , 2022
Link: https://doi.org/10.1016/..
 
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11

Diagnosis and discovery: Insights from the NIH Undiagnosed ..:

Montano, Carolina ; Cassini, Thomas ; Ziegler, Shira G....
Journal of Inherited Metabolic Disease.  45 (2022)  5 - p. 907-918 , 2022
Link: https://doi.org/10.1002/..
 
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12

Dysregulated myosin in Hermansky-Pudlak syndrome lung fibro..:

Imani, Jewel ; Bodine, Steven P. M. ; Lamattina, Anthony M....
Respiratory Research.  23 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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13

Progressive pulmonary fibrosis in a murine model of Hermans..:

Abudi-Sinreich, Shachar ; Bodine, Steven P. ; Yokoyama, Tadafumi...
Respiratory Research.  23 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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14

Oculocutaneous albinism and bleeding diathesis due to a nov..:

Marek-Yagel, Dina ; Abudi-Sinreich, Shachar ; Macarov, Michal...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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15

A novel experimental mouse model to investigate a free sial..:

Sabir, Marya S. ; Hackbarth, Mary E. ; Burke, John D....
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S107 , 2022
Link: https://doi.org/10.1016/..
 
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