المؤلفون: Maria Judit Molnar, Tamas Szlepak, Ildikó Csürke, Szendile Loth, Rita Káposzta, Melinda Erdős, Antal Dezsőfi

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: ASMD, acid sphingomyelinase deficiency type A/B, intermediate-type acid sphingomyelinase deficiency, Niemann-Pick disease type A/B, SMPD1, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1158108/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/4e5af7abff8345f7874df2075855a40b

المؤلفون: Ulrike Blümlein, Eugen Mengel, Yasmina Amraoui

المصدر: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100900- (2022)

مصطلحات موضوعية: Acid sphingomyelinase deficiency type A/B, Intermediate-type acid sphingomyelinase deficiency, Lysosomal storage disorder, Niemann–Pick disease type A/B, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692200060X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/a609d2bda9074b598c9792b69e1e16a4

المؤلفون: Margaret M. McGovern, Melissa P. Wasserstein, Bruno Bembi, Roberto Giugliani, K. Eugen Mengel, Marie T. Vanier, Qi Zhang, M. Judith Peterschmitt

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Niemann-Pick disease type B, Niemann-Pick disease type A/B, ASMD, Lysosomal storage disease, Natural history, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1030be956c3b4ceaaaacd1eedd1f9036

المؤلفون: McGovern, Margaret M.^Aff1, Wasserstein, Melissa P., Bembi, Bruno, Giugliani, Roberto, Mengel, K. Eugen, Vanier, Marie T., Zhang, Qi, Peterschmitt, M. Judith

المصدر: Orphanet Journal of Rare Diseases. 16(1)

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المؤلفون: Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Jonathan S. Kingsbury, John Hinds, Pavlina Wolf, Petra Oliva, Joan Keutzer, Gerald F. Cox, Kate Zhang

المصدر: Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 55-57 (2015)

مصطلحات موضوعية: Niemann–Pick disease type A/B, Acid sphingomyelinase activity, Screening, Natural substrate, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426915300057; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/ba46dfa394d047ddbe6badab30e4c1ba

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المؤلفون: Marie T. Vanier, Melissa P. Wasserstein, M. Judith Peterschmitt, Margaret M. McGovern, Eugen Mengel, Shaolan Xiang, Bruno Bembi, Roberto Giugliani

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Longitudinal study, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Lysosomal storage disease, Disease, 030105 genetics & heredity, Biochemistry, Endocrinology, Pharmacology (medical), Longitudinal Studies, Prospective Studies, Child, Prospective cohort study, Genetics (clinical), Niemann-Pick Diseases, ASMD, Niemann-Pick disease type B, General Medicine, Middle Aged, Niemann-Pick Disease, Type A, Natural history, Sphingomyelin Phosphodiesterase, Child, Preschool, Medicine, Female, Acid sphingomyelinase, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Splenectomy, Young Adult, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, Molecular Biology, Disease burden, business.industry, Research, Odds ratio, medicine.disease, Pneumonia, 030104 developmental biology, Lung Diseases, Interstitial, business, Niemann-Pick disease type A/B

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9604bc5110b1e18367bdc16fcbd5af54
https://doi.org/10.1186/s13023-021-01842-0

المؤلفون: Joshua Pacheco, Jonathan S. Kingsbury, Wei-Lien Chuang, Kate Zhang, Petra Oliva, Samantha Cooper, Gerald F. Cox, Pavlina Wolf, Joan Keutzer, John W Hinds

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 55-57 (2015)

مصطلحات موضوعية: Sodium taurocholate, Brief Communication, Compound heterozygosity, Niemann–Pick disease type A/B, Endocrinology, Genetics, medicine, Missense mutation, Multiplex, lcsh:QH301-705.5, Molecular Biology, Screening study, lcsh:R5-920, Acid sphingomyelinase activity, business.industry, nutritional and metabolic diseases, Substrate (chemistry), Natural substrate, lcsh:Biology (General), Biochemistry, Screening, Acid sphingomyelinase, lcsh:Medicine (General), Sphingomyelin, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f29d42c4f54bf6e00c261f9ead9d8b
https://doi.org/10.1016/j.ymgmr.2015.04.001

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