LSDDB

Aguisanda, F., Thorne, N., & Zheng, W. (2017). Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development. Current Chemical Genomics and Translational Medicine, 11, 1–18. https://doi.org/10.2174/2213988501711010001

Annunziata, I., & d’Azzo, A. (2017). Galactosialidosis: Historic aspects and overview of investigated and emerging treatment options. Expert Opinion on Orphan Drugs, 5(2), 131–141. https://doi.org/10.1080/21678707.2016.1266933

Apweiler, R. (2004). UniProt: The Universal Protein knowledgebase. Nucleic Acids Research, 32(90001), 115D – 119. https://doi.org/10.1093/nar/gkh131

Arvio, M., & Mononen, I. (2016). Aspartylglycosaminuria: A review. Orphanet Journal of Rare Diseases, 11. https://doi.org/10.1186/s13023-016-0544-6

Atiskova, Y., Bartsch, S., Danyukova, T., Becker, E., Hagel, C., Storch, S., & Bartsch, U. (2019). Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype. Scientific Reports, 9(1), 14185. https://doi.org/10.1038/s41598-019-50726-8

Basak, I., Wicky, H. E., McDonald, K. O., Xu, J. B., Palmer, J. E., Best, H. L., Lefrancois, S., Lee, S. Y., Schoderboeck, L., & Hughes, S. M. (2021). A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis. Cellular and Molecular Life Sciences, 78(10), 4735–4763. https://doi.org/10.1007/s00018-021-03813-x

Bascou, N., DeRenzo, A., Poe, M. D., & Escolar, M. L. (2018). A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. Orphanet Journal of Rare Diseases, 13, 126. https://doi.org/10.1186/s13023-018-0872-9

Bäumner, S., & Weber, L. T. (2018). Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease. Frontiers in Pediatrics, 6, 58. https://doi.org/10.3389/fped.2018.00058

Beesley, C., Guerreiro, R. J., Bras, J. T., Williams, R. E., Taratuto, A. L., Eltze, C., & Mole, S. E. (2016). CLN8 disease caused by large genomic deletions. Molecular Genetics & Genomic Medicine, 5(1), 85–91. https://doi.org/10.1002/mgg3.263

Berman, H. M., Westbrook, J., Feng, Z., Gilliland, G., Bhat, T. N., Weissig, H., Shindyalov, I. N., & Bourne, P. E. (2000). The Protein Data Bank. Nucleic Acids Research, 28(1), 235–242. https://doi.org/10.1093/nar/28.1.235

Boudewyn, L. C., & Walkley, S. U. (2019). Current concepts in the neuropathogenesis of mucolipidosis type IV. Journal of Neurochemistry, 148(5), 669–689. https://doi.org/10.1111/jnc.14462

Bromberg, Y., & Rost, B. (2007). SNAP: Predict effect of non-synonymous polymorphisms on function. Nucleic Acids Research, 35(11), 3823–3835. https://doi.org/10.1093/nar/gkm238

Broomfield, A., Gunny, R., Ali, I., Vellodi, A., & Prabhakar, P. (2013). A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus. JIMD Reports, 11, 93–97. https://doi.org/10.1007/8904_2013_227

Bunge, S., Knigge, A., Steglich, C., Kleijer, W. J., Diggelen, O. P. van, Beck, M., & Gal, A. (1999). Mucopolysaccharidosis type IIIB (Sanfilippo B): Identification of 18 novel α-N-acetylglucosaminidase gene mutations. Journal of Medical Genetics, 36(1), 28–32. https://doi.org/10.1136/jmg.36.1.28

Bunk, J., Prieto Huarcaya, S., Drobny, A., Dobert, J. P., Walther, L., Rose-John, S., Arnold, P., & Zunke, F. (2021). Cathepsin D Variants Associated With Neurodegenerative Diseases Show Dysregulated Functionality and Modified α-Synuclein Degradation Properties. Frontiers in Cell and Developmental Biology, 9, 101. https://doi.org/10.3389/fcell.2021.581805

Caciotti, A., Catarzi, S., Tonin, R., Lugli, L., Perez, C. R., Michelakakis, H., Mavridou, I., Donati, M. A., Guerrini, R., d’Azzo, A., & Morrone, A. (2013). Galactosialidosis: Review and analysis of CTSA gene mutations. Orphanet Journal of Rare Diseases, 8, 114. https://doi.org/10.1186/1750-1172-8-114

Cadaoas, J., Hu, H., Boyle, G., Gomero, E., Mosca, R., Jayashankar, K., Machado, M., Cullen, S., Guzman, B., Vlekkert, D. van de, Annunziata, I., Vellard, M., Kakkis, E., Koppaka, V., & d’Azzo, A. (2021). Galactosialidosis: Preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept. Molecular Therapy - Methods & Clinical Development, 20, 191–203. https://doi.org/10.1016/j.omtm.2020.11.012

Capriotti, E., Calabrese, R., Fariselli, P., Martelli, P. L., Altman, R. B., & Casadio, R. (2013). WS-SNPs&GO: A web server for predicting the deleterious effect of human protein variants using functional annotation. BMC Genomics, 14(Suppl 3), S6. https://doi.org/10.1186/1471-2164-14-S3-S6

Chinen, Y., Tohma, T., Izumikawa, Y., Uehara, H., & Ohta, T. (2005). Sanfilippo type B syndrome: Five patients with an R565P homozygous mutation in the α- N -acetylglucosaminidase gene from the Okinawa islands in Japan. Journal of Human Genetics, 50(7), 357–359. https://doi.org/10.1007/s10038-005-0258-4

Christomanou, H., Aignesberger, A., & Linke, R. P. (1986). Immunochemical Characterization of Two Activator Proteins Stimulating Enzymic Sphingomyelin Degradation in vitro Absence of One of them in a Human Gaucher Disease Variant. 367(2), 879–890. https://doi.org/10.1515/bchm3.1986.367.2.879

Clark, K., Karsch-Mizrachi, I., Lipman, D. J., Ostell, J., & Sayers, E. W. (2016). GenBank. Nucleic Acids Research, 44(Database issue), D67–D72. https://doi.org/10.1093/nar/gkv1276

Clarke, J. T., Wilson, P. J., Morris, C. P., Hopwood, J. J., Richards, R. I., Sutherland, G. R., & Ray, P. N. (1992). Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome. American Journal of Human Genetics, 51(2), 316–322.

Coppola, A., Ianniciello, M., Vanli-Yavuz, E. N., Rossi, S., Simonelli, F., Castellotti, B., Esposito, M., Tozza, S., Troisi, S., Bellofatto, M., Ugga, L., Striano, S., D’Amico, A., Baykan, B., Striano, P., & Bilo, L. (2020). Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients. Brain Sciences, 10(8), 506. https://doi.org/10.3390/brainsci10080506

Devi, A. R. R., Gopikrishna, M., Ratheesh, R., Savithri, G., Swarnalata, G., & Bashyam, M. (2006). Farber lipogranulomatosis: Clinical and molecular genetic analysis reveals a novel mutation in an Indian family. Journal of Human Genetics, 51(9), 811–814. https://doi.org/10.1007/s10038-006-0019-z

Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., & von Figura, K. (2003). Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell, 113(4), 435–444.

Esposito, S., Balzano, N., Daniele, A., Villani, G. R. D., Perkins, K., Weber, B., Hopwood, J. J., & Di Natale, P. (2000). Heparan N-sulfatase gene: Two novel mutations and transient expression of 15 defects. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1501(1), 1–11. https://doi.org/10.1016/S0925-4439(99)00118-0

Evans, W. R. H., & Hendriksz, C. J. (2017). Niemann–Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment. BJPsych Bulletin, 41(2), 109–114. https://doi.org/10.1192/pb.bp.116.054072

Fan, X., Zhang, H., Zhang, S., Bagshaw, R. D., Tropak, M. B., Callahan, J. W., & Mahuran, D. J. (2006). Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C). The American Journal of Human Genetics, 79(4), 738–744. https://doi.org/10.1086/508068

Gravel, R. A., Triggs-Raine, B. L., & Mahuran, D. J. (1991). Biochemistry and Genetics of Tay-Sachs Disease. Canadian Journal of Neurological Sciences / Journal Canadien Des Sciences Neurologiques, 18(S3), 419–423. https://doi.org/10.1017/S0317167100032583

Gupta, N., Aggarwal, B., & Kabra, M. (2018). Lysosomal Storage Disorders in India: A Mini Review. Journal of Mucopolysaccharidosis and Rare Diseases, 4(1), 1–6. https://doi.org/10.19125/jmrd.2018.4.1.1

Hamosh, A., Scott, A. F., Amberger, J. S., Bocchini, C. A., & McKusick, V. A. (2005). Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Research, 33(Database Issue), D514–D517. https://doi.org/10.1093/nar/gki033

Harmatz, P., Mengel, K. E., Giugliani, R., Valayannopoulos, V., Lin, S.-P., Parini, R., Guffon, N., Burton, B. K., Hendriksz, C. J., Mitchell, J., Martins, A., Jones, S., Guelbert, N., Vellodi, A., Hollak, C., Slasor, P., & Decker, C. (2013). The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Molecular Genetics and Metabolism, 109(1), 54–61. https://doi.org/10.1016/j.ymgme.2013.01.021

Hengst, M., Naehrlich, L., Mahavadi, P., Grosse-Onnebrink, J., Terheggen-Lagro, S., Skanke, L. H., Schuch, L. A., Brasch, F., Guenther, A., Reu, S., Ley-Zaporozhan, J., & Griese, M. (2018). Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood. Orphanet Journal of Rare Diseases, 13(1), 42. https://doi.org/10.1186/s13023-018-0780-z

Imler, E., Pyon, J. S., Kindelay, S., Torvund, M., Zhang, Y., Chandra, S. S., & Zinsmaier, K. E. (n.d.). A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism. ELife, 8, e46607. https://doi.org/10.7554/eLife.46607

Kamp, J. J. P. V. D., Niermeijer, M. F., Figura, K. V., & Giesberts, M. a. H. (1981). Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clinical Genetics, 20(2), 152–160. https://doi.org/10.1111/j.1399-0004.1981.tb01821.x

Kaur, A., Dhaliwal, A. S., Raynes, H., Naidich, T. P., & Kaufman, D. M. (2019). Diagnosis and Supportive Management of Fucosidosis: A Case Report. Cureus, 11(11). https://doi.org/10.7759/cureus.6139

Kresse, H., Paschke, E., von Figura, K., Gilberg, W., & Fuchs, W. (1980). Sanfilippo disease type D: Deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. Proceedings of the National Academy of Sciences of the United States of America, 77(11), 6822–6826. https://doi.org/10.1073/pnas.77.11.6822

Leal, A. F., Benincore-Flórez, E., Solano-Galarza, D., Garzón Jaramillo, R. G., Echeverri-Peña, O. Y., Suarez, D. A., Alméciga-Díaz, C. J., & Espejo-Mojica, A. J. (2020). GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies. International Journal of Molecular Sciences, 21(17), 6213. https://doi.org/10.3390/ijms21176213

Lim, J.-A., Li, L., & Raben, N. (2014). Pompe disease: From pathophysiology to therapy and back again. Frontiers in Aging Neuroscience, 6, 177. https://doi.org/10.3389/fnagi.2014.00177

Malm, D., & Nilssen, Ø. (2008). Alpha-mannosidosis. Orphanet Journal of Rare Diseases, 3(1), 21. https://doi.org/10.1186/1750-1172-3-21

McBride, J. L., Neuringer, M., Ferguson, B., Kohama, S. G., Tagge, I. J., Zweig, R. C., Renner, L. M., McGill, T. J., Stoddard, J., Peterson, S., Su, W., Sherman, L. S., Domire, J. S., Ducore, R. M., Colgin, L. M., & Lewis, A. D. (2018). Discovery of a CLN7 model of Batten disease in non-human primates. Neurobiology of Disease, 119, 65–78. https://doi.org/10.1016/j.nbd.2018.07.013

McGovern, M. M., Avetisyan, R., Sanson, B.-J., & Lidove, O. (2017). Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). Orphanet Journal of Rare Diseases, 12(1), 41. https://doi.org/10.1186/s13023-017-0572-x

Mi, H., Ebert, D., Muruganujan, A., Mills, C., Albou, L.-P., Mushayamaha, T., & Thomas, P. D. (2021). PANTHER version 16: A revised family classification, tree-based classification tool, enhancer regions and extensive API. Nucleic Acids Research, 49(D1), D394–D403. https://doi.org/10.1093/nar/gkaa1106

Miarzlou, D. A., Leisinger, F., Joss, D., Häussinger, D., & Seebeck, F. P. (2019). Structure of formylglycine-generating enzyme in complex with copper and a substrate reveals an acidic pocket for binding and activation of molecular oxygen. Chemical Science, 10(29), 7049–7058. https://doi.org/10.1039/C9SC01723B

Michalski, J.-C., & Klein, A. (1999). Glycoprotein lysosomal storage disorders: α- and β-mannosidosis, fucosidosis and α-N-acetylgalactosaminidase deficiency. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1455(2), 69–84. https://doi.org/10.1016/S0925-4439(99)00077-0

Modaressi, S., Katrin, R., VON FIGURA, K., & PETERS, C. (1993). Structure of the human arylsulfatase B gene. Biological Chemistry Hoppe-Seyler, 374(1–6), 327–336.

Mok, A., Cao, H., & Hegele, R. A. (2003). Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. Genomics, 81(1), 1–5. https://doi.org/10.1016/S0888-7543(02)00014-9

Mole, S. E., & Cotman, S. L. (2015). Genetics of the Neuronal Ceroid Lipofuscinoses (Batten disease). Biochimica et Biophysica Acta, 1852(10 0 0), 2237–2241. https://doi.org/10.1016/j.bbadis.2015.05.011

Muenzer, J. (2011). Overview of the mucopolysaccharidoses. Rheumatology, 50(suppl 5), v4–v12. https://doi.org/10.1093/rheumatology/ker394

Nagral, A. (2014). Gaucher Disease. Journal of Clinical and Experimental Hepatology, 4(1), 37–50. https://doi.org/10.1016/j.jceh.2014.02.005

Nakashima, Y., Tomatsu, S., Hori, T., Fukuda, S., Sukegawa, K., Kondo, N., Suzuki, Y., Shimozawa, N., & Orii, T. (1994). Mucopolysaccharidosis IV A: Molecular Cloning of the Human N-Acetylgalactosamine-6-sulfatase Gene (GALNS) and Analysis of the 5′-Flanking Region. Genomics, 20(1), 99–104. https://doi.org/10.1006/geno.1994.1132

Ng, P. C., & Henikoff, S. (2003). SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Research, 31(13), 3812–3814.

Oresic, K., Mueller, B., & Tortorella, D. (2009). CLN6 MUTANTS ASSOCIATED WITH NEURONAL CEROID LIPOFUSCINOSIS ARE DEGRADED IN A PROTEASOME DEPENDENT MANNER. Bioscience Reports, 29(3), 173–181. https://doi.org/10.1042/BSR20080143

Oshima, A., Yoshida, K., Shimmoto, M., Fukuhara, Y., Sakuraba, H., & Suzuki, Y. (1991). Human beta-galactosidase gene mutations in morquio B disease. American Journal of Human Genetics, 49(5), 1091–1093.

Paavola, L. E., Remes, A. M., Harila, M. J., Varho, T. T., Korhonen, T. T., & Majamaa, K. (2015). A 13-year follow-up of Finnish patients with Salla disease. Journal of Neurodevelopmental Disorders, 7(1), 20. https://doi.org/10.1186/s11689-015-9116-7

Pavuluri, P., Vadakedath, S., Gundu, R., Uppulety, S., & Kandi, V. (2017). Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder. Cureus, 9(1), e949. https://doi.org/10.7759/cureus.949

Platt, F. M., Boland, B., & van der Spoel, A. C. (2012). Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. The Journal of Cell Biology, 199(5), 723–734. https://doi.org/10.1083/jcb.201208152

Pshezhetsky, A. V., & Ashmarina, M. (2001). Lysosomal multienzyme complex: Biochemistry, genetics, and molecular pathophysiology. In Progress in Nucleic Acid Research and Molecular Biology (Vol. 69, pp. 81–114). Academic Press. https://doi.org/10.1016/S0079-6603(01)69045-7

Raas-Rothschild, A., Bargal, R., DellaPergola, S., Zeigler, M., & Bach, G. (1999). Mucolipidosis type IV: The origin of the disease in the Ashkenazi Jewish population. European Journal of Human Genetics, 7(4), 496–498. https://doi.org/10.1038/sj.ejhg.5200277

Robertson, D. A., Callen, D. F., Baker, E. G., Morris, C. P., & Hopwood, J. J. (1988). Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14. Human Genetics, 79(2), 175–178. https://doi.org/10.1007/BF00280560

Rusyn, E., Mousallem, T., Persaud-Sawin, D.-A., Miller, S., & Boustany, R.-M. N. (2008). CLN3p Impacts Galactosylceramide Transport, Raft Morphology, and Lipid Content. Pediatric Research, 63(6), 625–631. https://doi.org/10.1203/PDR.0b013e31816fdc17

San-Román-Monserrat, I., Gimeno-Blanes, J.-R., Rodríguez-González-Herrero, M. E., Sodi, A., Mecocci, A., Alegría-Fernández, M., López, D., Rodríguez, B., & Herrero, G.-. (2016). Fabry disease: Prototype of Lysosomal Storage Disorder with systemic involvementComment on “Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.” 6.

Schuchman, E. H., Ledesma, M. D., & Simonaro, C. M. (2021). New paradigms for the treatment of lysosomal storage diseases: Targeting the endocannabinoid system as a therapeutic strategy. Orphanet Journal of Rare Diseases, 16(1), 151. https://doi.org/10.1186/s13023-021-01779-4

Schulz, A., Mousallem, T., Venkataramani, M., Persaud-Sawin, D.-A., Zucker, A., Luberto, C., Bielawska, A., Bielawski, J., Holthuis, J. C. M., Jazwinski, S. M., Kozhaya, L., Dbaibo, G. S., & Boustany, R.-M. N. (2006). The CLN9 Protein, a Regulator of Dihydroceramide Synthase *. Journal of Biological Chemistry, 281(5), 2784–2794. https://doi.org/10.1074/jbc.M509483200

Shaimardanova, A. A., Chulpanova, D. S., Solovyeva, V. V., Mullagulova, A. I., Kitaeva, K. V., Allegrucci, C., & Rizvanov, A. A. (2020). Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches. Frontiers in Medicine, 7, 692. https://doi.org/10.3389/fmed.2020.576221

Sheth, J., Datar, C., Mistri, M., Bhavsar, R., Sheth, F., & Shah, K. (2016). GM2 gangliosidosis AB variant: Novel mutation from India – a case report with a review. BMC Pediatrics, 16(1), 88. https://doi.org/10.1186/s12887-016-0626-6

Sheth, J., Mistri, M., Bhavsar, R., Pancholi, D., Kamate, M., Gupta, N., Kabra, M., Mehta, S., Nampoothiri, S., Thakker, A., Jain, V., Shah, R., & Sheth, F. (2018). Batten disease: Biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients. BMC Neurology, 18(1), 203. https://doi.org/10.1186/s12883-018-1206-1

Shipley, J. M., Klinkenberg, M., Wu, B. M., Bachinsky, D. R., Grubb, J. H., & Sly, W. S. (1993). Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. American Journal of Human Genetics, 52(3), 517–526.

Siintola, E., Topcu, M., Aula, N., Lohi, H., Minassian, B. A., Paterson, A. D., Liu, X.-Q., Wilson, C., Lahtinen, U., Anttonen, A.-K., & Lehesjoki, A.-E. (2007). The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter. The American Journal of Human Genetics, 81(1), 136–146. https://doi.org/10.1086/518902

Singh, A., Prasad, R., Gupta, A. K., Sharma, A., Alves, S., Coutinho, M. F., Kapoor, S., & Mishra, O. P. (2017). I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. The Indian Journal of Pediatrics, 84(2), 144–146. https://doi.org/10.1007/s12098-016-2243-7

Spiegel, R., Bach, G., Sury, V., Mengistu, G., Meidan, B., Shalev, S., Yona Shneor, Mandel, H., & Zeigler, M. (2005). A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: First report of saposin A deficiency in humans. Molecular Genetics and Metabolism, 84(2), 160–166. https://doi.org/10.1016/j.ymgme.2004.10.004

Stapleton, M., Kubaski, F., Mason, R. W., Yabe, H., Suzuki, Y., Orii, K. E., Orii, T., & Tomatsu, S. (2017). Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome). Expert Opinion on Orphan Drugs, 5(4), 295–307. https://doi.org/10.1080/21678707.2017.1296761

Tang, C., Han, J., Dalvi, S., Manian, K., Winschel, L., Volland, S., Soto, C. A., Galloway, C. A., Spencer, W., Roll, M., Milliner, C., Bonilha, V. L., Johnson, T. B., Latchney, L., Weimer, J. M., Augustine, E. F., Mink, J. W., Gullapalli, V. K., Chung, M., … Singh, R. (2021). A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface. Communications Biology, 4(1), 1–18. https://doi.org/10.1038/s42003-021-01682-5

Verma, R., Raut, T. P., Tiwari, N., Malhotra, K. P., Hussain, N., & Malhotra, H. S. (2013). Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature. Annals of Indian Academy of Neurology, 16(2), 282–285. https://doi.org/10.4103/0972-2327.112500

Wang, A. M., Schindler, D., & Desnick, R. (1990). Schindler disease: The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. Journal of Clinical Investigation, 86(5), 1752–1756. https://doi.org/10.1172/JCI114901

Wasserstein, M. P., & Schuchman, E. H. (1993). Acid Sphingomyelinase Deficiency. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. Bean, G. Mirzaa, & A. Amemiya (Eds.), GeneReviews®. University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK1370/

Xu, J., Li, Z., Liu, Y., Zhang, X., Niu, F., Zheng, H., Wang, L., Kang, L., Wang, K., & Xu, B. (2021). Danon disease: A case report and literature review. Diagnostic Pathology, 16(1), 39. https://doi.org/10.1186/s13000-021-01100-8

Xue, Y., Cai, T., Shi, S., Wang, W., Zhang, Y., Mao, T., & Duan, X. (2011). Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. Orphanet Journal of Rare Diseases, 6, 20. https://doi.org/10.1186/1750-1172-6-20

Yokoyama, T., & Gochuico, B. R. (2021). Hermansky–Pudlak syndrome pulmonary fibrosis: A rare inherited interstitial lung disease. European Respiratory Review, 30(159). https://doi.org/10.1183/16000617.0193-2020

Yun, Y.-M., & Lee, S.-N. (2005). A Case Refort of Sandhoff Disease. Korean Journal of Ophthalmology, 19(1), 68. https://doi.org/10.3341/kjo.2005.19.1.68

Zhou, J., Lin, J., Leung, W. T., & Wang, L. (2020). A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management. Intractable & Rare Diseases Research, 9(1), 1–9. https://doi.org/10.5582/irdr.2020.01011