المؤلفون: Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Acid sphingomyelinase deficiency (ASMD), Niemann–Pick disease, Mortality, Survival, Niemann–Pick disease type B, Standardised mortality ratio, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/ab41a96d0cef4ab491a951b59def6bd6

المساهمون: Eline C. B. Eskes, MD

المصدر: Biomarkers Of Lung InVolvement In ASMD

المساهمون: Eline C. B. Eskes, MD

المصدر: Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency

المؤلفون: Robin H. Lachmann, George A. Diaz, Melissa P. Wasserstein, Nicole M. Armstrong, Abhimanyu Yarramaneni, Yong Kim, Monica Kumar

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Olipudase alfa, Recombinant human acid sphingomyelinase, Acid sphingomyelinase deficiency, Niemann-Pick disease type B and type A/B, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/44948c4c23eb4eafbf4f6ef268c87d62

المؤلفون: Zhe-wen Zhou, Shou-hao Wang, Cheng-an Xu, Wen-hao Wu, Tian-chen Hui, Qiao-qiao Yin, Wei Zheng, Hong-ying Pan

المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Niemann Pick disease type B, Sea-blue histiocytosis, Budd-Chiari syndrome, SMPD1 gene, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/8d571523027547d08df209e10db93575

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: L. Ordieres-Ortega, F. Galeano-Valle, M. Mallén-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther, P. Demelo-Rodríguez

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: Niemann-Pick disease, type B, Sphingomyelin phosphodiesterase, Low HDL cholesterol, Genetics, Internal medicine, RC31-1245, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01027-9; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/6f6092e76c624afd8aff8a61802b4c35

المصدر: Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation
Miller WP, Rothman SM, Nascene D, Kivisto T, DeFor TE, Ziegler RS, Eisengart J, Leiser K, Raymond G, Lund TC, Tolar J, Orchard PJ. Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. Blood. 2011 Aug 18;118(7):1971-8. doi: 10.1182/blood-2011-01-329235. Epub 2011 May 17.

المؤلفون: Min-Yu Lan, Tsung-Wei Kang, Shih-Chun Lan, Wan-Ting Huang

المصدر: Journal of Clinical Lipidology. 16:434-437

مصطلحات موضوعية: Phenotype, Sphingomyelin Phosphodiesterase, Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism, Splenomegaly, Internal Medicine, Humans, Niemann-Pick Disease, Type B, Splenic Rupture, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1888a301f766aca59d01b2d65e1b2f71
https://doi.org/10.1016/j.jacl.2022.06.002

المؤلفون: Evelina Maines, Roberto Franceschi, Caterina Rizzardi, Federica Deodato, Giovanni Piccoli, Vincenza Gragnaniello, Alberto Burlina, Massimo Soffiati

المصدر: Journal of Clinical Lipidology. 16:143-154

مصطلحات موضوعية: Niemann-Pick Diseases, Sphingomyelin Phosphodiesterase, Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism, Internal Medicine, Humans, Cholesterol, LDL, Niemann-Pick Disease, Type B, Niemann-Pick Disease, Type A, Atherosclerosis, Child, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4ccc636695a4b5a3952f52f4203fa8d
https://doi.org/10.1016/j.jacl.2022.01.008

المؤلفون: Patiño Escobar, Bonell, Solano, María Helena, Zarabanda, Laura, Casas, Claudia Patricia, Castro, Carlos

المصدر: https://www.cureus.com/articles/19466-niemann-pick-disease-an-approach-for-diagnosis-in-adulthood#introduction.

مصطلحات موضوعية: Lysosomal acid lipase deficiency, Rare disease, Splenomegaly, Niemann-pick disease type b, Enfermedad de Niemann-Pick Tipo B, Enfermedades por almacenamiento lisosomal, Esplenomegalia, Enfermedades raras

وصف الملف: 6 p.; application/pdf

Relation: Cureus eISSN: 168-8184 Vol.11 Núm.5 (2019); 11; Cureus; https://repositorio.fucsalud.edu.co/handle/001/1737

الاتاحة: https://repositorio.fucsalud.edu.co/handle/001/1737

المؤلفون: Erica L. Beatman, Christophe Poirier, Danting Cao, Andrew M. Mikosz, Alexandra L. McCubbrey, Irina Petrache, Irina Bronova, Christina F Cornell, Evgeny Berdyshev, Joanna M Poczobutt, Karina A. Serban, Fabienne Gally, François Paris, Kelly S. Schweitzer

المصدر: Am J Respir Cell Mol Biol

مصطلحات موضوعية: Male, Neutrophils, Clinical Biochemistry, Gene Expression, Mice, Lectins, hemic and lymphatic diseases, Macrophage, Lung, Th1-Th2 Balance, Original Research, Mice, Knockout, CD11b Antigen, Chemistry, Chitinases, Interstitial lung disease, Niemann-Pick Disease, Type B, Niemann-Pick Disease, Type A, respiratory system, beta-N-Acetylhexosaminidases, Sphingomyelin Phosphodiesterase, medicine.anatomical_structure, Female, Acid sphingomyelinase, medicine.symptom, Lysophospholipase, Sphingomyelin, medicine.drug, Pulmonary and Respiratory Medicine, Inflammation, Phagocytosis, Macrophages, Alveolar, medicine, Animals, Humans, Molecular Biology, Cell Size, Glycoproteins, CD11 Antigens, Macrophages, nutritional and metabolic diseases, Pneumonia, Cell Biology, medicine.disease, respiratory tract diseases, Eosinophils, Disease Models, Animal, Cancer research, Function (biology)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41c8f3066077f7627f260556e202e5a8
https://doi.org/10.1165/rcmb.2020-0229oc

المؤلفون: Heraldo Luis Dias da Silveira, Carolina Fischinger Moura de Souza, Claubia Viegas Bender, Juliano Cavagni, Roberto Giugliani, Pantelis Varvaki Rados, Angela Beatriz John, Fernanda Visioli, Natalia Soares dos Santos

المصدر: American Journal of Medical Genetics Part A. 182:2891-2901

مصطلحات موضوعية: Adult, Male, Cephalometric analysis, Adolescent, Dentistry, Craniofacial Abnormalities, Young Adult, Periodontal disease, Genetics, Microdontia, medicine, Humans, Craniofacial, Child, Periodontal Diseases, Genetics (clinical), Periodontitis, Dental anomalies, Tooth Abnormalities, business.industry, Niemann-Pick Disease, Type B, Middle Aged, Prognosis, medicine.disease, stomatognathic diseases, Sphingomyelin Phosphodiesterase, Agenesis, Bruxism, Female, Acid sphingomyelinase, Mouth Diseases, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd15f9a1ddf77ee75127bf4225882b5a
https://doi.org/10.1002/ajmg.a.61871

المؤلفون: Teixeira, Vera Barreto, Coutinho, Inês, Cardoso, José Carlos, Tellhechea, Óscar

المصدر: Anais Brasileiros de Dermatologia. December 2013 88(6)

مصطلحات موضوعية: Granuloma, Lichen nitidus, Niemann-Pick disease, type B

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000600977

المؤلفون: Yiwu Zhou, Qing Shi, Shuquan Zhao, Weinian Deng

المصدر: The American journal of forensic medicine and pathology. 41(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.medical_treatment, Splenectomy, Mutation, Missense, Spleen, Disease, Asymptomatic, Undiagnosed Diseases, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Traumatic splenic rupture, medicine, Humans, 030216 legal & forensic medicine, Niemann-Pick disease type B, business.industry, Niemann-Pick Disease, Type B, Splenic Rupture, Bleed, Middle Aged, medicine.disease, Surgery, medicine.anatomical_structure, Sphingomyelin Phosphodiesterase, Physical Abuse, medicine.symptom, Niemann–Pick disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbe65d71dc9bd04ce21107b82944066c
https://pubmed.ncbi.nlm.nih.gov/32541392

المؤلفون: Zhe-wen Zhou, Shou-hao Wang, Cheng-an Xu, Wen-hao Wu, Tian-chen Hui, Qiao-qiao Yin, Wei Zheng, Hong-ying Pan

المصدر: BMC medical genomics. 15(1)

مصطلحات موضوعية: Niemann-Pick Diseases, Child, Preschool, Mutation, Genetics, Humans, Female, Niemann-Pick Disease, Type B, Budd-Chiari Syndrome, Diagnostic Errors, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a953d00054b4df221141484e390b2d7
https://pubmed.ncbi.nlm.nih.gov/36114502

المؤلفون: Vera Malinova, Ladislav Kuchar, Helena Jahnová, Befekadu Asfaw, Maria Gulinello, Jakub Sikora, Helena Poupetova, A. Lugowska, Jana Ledvinová

المصدر: Analytical Biochemistry. 525:73-77

مصطلحات موضوعية: 0301 basic medicine, Spectrometry, Mass, Electrospray Ionization, medicine.medical_specialty, Phosphorylcholine, Biophysics, Pharmacology, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, Sphingosine, Tandem Mass Spectrometry, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Dried blood, Molecular Biology, Niemann-Pick disease type B, Niemann–Pick disease, type C, Chemistry, Niemann-Pick Disease, Type C, Niemann-Pick Disease, Type B, Cell Biology, Niemann-Pick Disease, Type A, medicine.disease, stomatognathic diseases, 030104 developmental biology, Endocrinology, Case-Control Studies, Dried Blood Spot Testing, Acid sphingomyelinase, Sphingomyelin, Biomarkers, Lysosphingomyelin, Chromatography, Liquid, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907a5cf2b5627369faf1680595a8b8d5
https://doi.org/10.1016/j.ab.2017.02.019

المؤلفون: Johannes M. F. G. Aerts, Carla E. M. Hollak, Frédéric M. Vaz, Barbara Sjouke, Susan M. I. Goorden, Eline C. B. Eskes, André B.P. van Kuilenburg

المصدر: Molecular Genetics and Metabolism, 130(1), 16-26. ACADEMIC PRESS INC ELSEVIER SCIENCE

مصطلحات موضوعية: Lung Diseases, 0301 basic medicine, Spirometry, Lipid storage disorder, Endocrinology, Diabetes and Metabolism, Disease, 030105 genetics & heredity, Bioinformatics, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Acid sphingomyelinase deficiency (ASMD), Fibrosis, Genetics, Clinical endpoint, Humans, Medicine, Molecular Biology, Niemann-Pick disease type B (NPB), Sphingolipids, medicine.diagnostic_test, business.industry, Surrogate endpoint, Liver Diseases, Macrophages, Biochemical markers, Cholesterol, LDL, Niemann-Pick Disease, Type B, Enzyme replacement therapy, Niemann-Pick Disease, Type A, medicine.disease, Cardiovascular Diseases, Bone Diseases, Acid sphingomyelinase, Imaging parameters, business, Clinical endpoints, Spleen, 030217 neurology & neurosurgery, Biomarkers, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ae3f186a422c1da1c36a483e434f6f2
https://doi.org/10.1016/j.ymgme.2020.02.002

المؤلفون: Meltem Bakkal, Mustafa Sarp Kaya, Serdar Yeşiltaş

المساهمون: BAKKAL, MELTEM

المصدر: Bezmiâlem Science, Vol 7, Iss 1, Pp 74-76 (2019)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, lcsh:R5-920, Niemann-Pick disease type B, business.industry, General Engineering, Case Reports-, BEZMIALEM SCIENCE, cilt.7, ss.74-76, 2019 [KAYA M. S. , BAKKAL M., YEŞİLTAŞ S., -Dental Treatment of Two Children with Niemann Pick Disease Type B Under General Anesthesia], general anesthesia, stomatognathic diseases, medicine, hemostasis, business, lcsh:Medicine (General), Niemann-Pick disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::863c3ef229e677b2aa9bc050196f5295
https://hdl.handle.net/20.500.12645/5662

المؤلفون: Monika Szturmowicz, Adriana Rozy, Anna Tylki-Szymańska, Lucyna Opoka, Dorota Wyrostkiewicz, Piotr Radwan-Rohrenschef, Witold Tomkowski

المصدر: The American Journal of Case Reports

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Pulmonary fibrosis, medicine, Humans, education, Lung, Emphysema, Niemann-Pick Diseases, education.field_of_study, Bronchiectasis, medicine.diagnostic_test, business.industry, Interstitial lung disease, General Medicine, Niemann-Pick Disease, Type B, Articles, respiratory system, Niemann-Pick Disease, Type A, medicine.disease, respiratory tract diseases, Bronchoalveolar lavage, medicine.anatomical_structure, Pulmonary Emphysema, 030220 oncology & carcinogenesis, Sphingomyelin phosphodiesterase 1, Acid sphingomyelinase, business, Niemann–Pick disease, Lung Diseases, Interstitial, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e18de25629faf6d4b98dfaeb28f5208d
https://pubmed.ncbi.nlm.nih.gov/32759889