المؤلفون: da Fonseca Orcina, Bernardo¹ (AUTHOR) bernardoforcina@outlook.com, Reia, Verônica Caroline Brito¹ (AUTHOR), Zangrando, Denis² (AUTHOR), da Silva Santos, Paulo Sérgio¹ (AUTHOR)

المصدر: Journal of Rare Diseases. 10/10/2024, Vol. 3 Issue 1, p1-4. 4p.

مصطلحات موضوعية: *NIEMANN-Pick diseases, *PLANT extracts, *HOSPITAL care, *DENTAL care, *SYMPTOMS

المؤلفون: DAWIDOWSKA-NOWAK, IZABELA^1,2,3, BIEGAŃSKA-BANAŚ, JOANNA^4,5,6 joanna.bieganska@uj.edu.pl

المصدر: Family Medicine & Primary Care Review. 2024, Vol. 26 Issue 4, p444-449. 6p.

مصطلحات موضوعية: *FAMILIES & psychology, *NIEMANN-Pick diseases, *ANXIETY, *BURDEN of care, *STATE-Trait Anxiety Inventory, *PSYCHOLOGICAL stress, *PSYCHOLOGY of caregivers, *ADULTS

مصطلحات جغرافية: POLAND

المؤلفون: Solsona i Vilarrasa, Estel

المساهمون: University/Department: Universitat de Barcelona. Departament de Biomedicina

Thesis Advisors: García Ruiz, María del Carmen, Fernández-Checa Torres, José Carlos, Enrich Bastús, Carles

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Malalties del fetge, Enfermedades del higado, Liver diseases, Hepatopaties alcohòliques, Hepatopatías alcohólicas, Alcoholic liver diseases, Mitocondris, Mitocondrias, Mitochondria, Colesterol, Cholesterol, Malalties de Niemann-Pick, Enfermedades de Niemann-Pick, Niemann-Pick diseases, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/688149

المصدر: Pilot Study of the Use of Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls

المصدر: Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Solomon BI, Smith AC, Sinaii N, Farhat N, King MC, Machielse L, Porter FD. Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1. JAMA Neurol. 2020 Dec 1;77(12):1564-1568. doi: 10.1001/jamaneurol.2020.3241.
Solomon BI, Munoz AM, Sinaii N, Farhat NM, Smith AC, Bianconi S, Dang Do A, Backman MC, Machielse L, Porter FD. Phenotypic expression of swallowing function in Niemann-Pick disease type C1. Orphanet J Rare Dis. 2022 Sep 5;17(1):342. doi: 10.1186/s13023-022-02472-w.
Thurm A, Chlebowski C, Joseph L, Farmer C, Adedipe D, Weiss M, Wiggs E, Farhat N, Bianconi S, Berry-Kravis E, Porter FD. Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. J Dev Behav Pediatr. 2020 Jun/Jul;41(5):388-396. doi: 10.1097/DBP.0000000000000785.

المؤلفون: Mauhin, Wladimir¹ (AUTHOR), Guffon, Nathalie² (AUTHOR), Vanier, Marie T.³ (AUTHOR), Froissart, Roseline⁴ (AUTHOR), Cano, Aline⁵ (AUTHOR), Douillard, Claire⁶ (AUTHOR), Lavigne, Christian⁷ (AUTHOR), Héron, Bénédicte⁸ (AUTHOR), Belmatoug, Nadia⁹ (AUTHOR), Uzunhan, Yurdagül¹⁰ (AUTHOR), Lacombe, Didier¹¹ (AUTHOR), Levade, Thierry¹² (AUTHOR), Duvivier, Aymeric¹³ (AUTHOR), Pulikottil-Jacob, Ruth¹⁴ (AUTHOR), Laredo, Fernando¹⁵ (AUTHOR), Pichard, Samia¹⁶ (AUTHOR), Lidove, Olivier¹ (AUTHOR) OLidove@hopital-dcss.org, Abi-Wardé, Marie-Thérèse (AUTHOR), Berger, Marc (AUTHOR), Berthoux, Emilie (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 8/5/2024, Vol. 19 Issue 1, p1-12. 12p.

مصطلحات موضوعية: *NIEMANN-Pick diseases, *SPHINGOMYELINASE, *SURVIVAL rate, *FRENCH people, *CHILD mortality

مصطلحات جغرافية: FRANCE

المؤلفون: Stern, Sydney¹ (AUTHOR) Sydney.Stern@fda.hhs.gov, Crisamore, Karryn¹ (AUTHOR), Schuck, Robert¹ (AUTHOR), Pacanowski, Michael¹ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 7/26/2024, Vol. 19 Issue 1, p1-16. 16p.

مصطلحات موضوعية: *NIEMANN-Pick diseases, *LANDSCAPE assessment, *HYDROXYCHOLESTEROLS, *BIOMARKERS, *AGE of onset, *CEREBROSPINAL fluid, *LYSOSOMES

الشركة/الكيان: UNITED States. Food & Drug Administration

المؤلفون: Neissi, Mostafa^1,2,3 iammostafaneissi@gmail.com, Al-Badran, Adnan Issa⁴, Mohammadi-Asl, Misagh³, Al-Badran, Raed Abdulelah⁵ raedalbadran98@gmail.com, Sheikh-Hosseini, Motahareh^3,6, Roghani, Mojdeh³, Mohammadi-Asl, Javad^3,7

المصدر: Journal of Rare Diseases. 7/8/2024, Vol. 3 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *NIEMANN-Pick diseases, *GENETIC counseling, *PRENATAL diagnosis, *HYPERBILIRUBINEMIA, *CLINICAL trials

المؤلفون: Solomon, Beth I.¹ (AUTHOR) Bsolomon@nih.gov, Muñoz, Andrea M.² (AUTHOR), Sinaii, Ninet³ (AUTHOR), Mohamed, Hibaaq² (AUTHOR), Farhat, Nicole M.² (AUTHOR), Alexander, Derek² (AUTHOR), Do, An Dang² (AUTHOR), Porter, Forbes D.² (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 6/11/2024, Vol. 19 Issue 1, p1-10. 10p.

مصطلحات موضوعية: *DEGLUTITION, *NIEMANN-Pick diseases, *NATURAL history, *VISCOSITY, *LYSOSOMAL storage diseases, *CEREBROSPINAL fluid

المؤلفون: Karaaslan, Zerrin^1,2 (AUTHOR), Hanağası, Haşmet Ayhan¹ (AUTHOR), Gurvit, İbrahim Hakan¹ (AUTHOR), Bilgiç, Başar¹ (AUTHOR) bbilgic@istanbul.edu.tr

المصدر: Archives of Neuropsychiatry / Nöropsikiyatri Arşivi. Jun2024, Vol. 61 Issue 2, p101-106. 6p.

مصطلحات موضوعية: *ATAXIA, *NIEMANN-Pick diseases, *EYE movement measurements, *NEURODEGENERATION, *SACCADIC eye movements, *CASE-control method, *CEREBELLUM, *DATA analysis software, *CONFIDENCE intervals, *CASE studies, *GENETIC testing

المؤلفون: Hosseini, Kamran^1,2 (AUTHOR) kamran_hosseini2015@yahoo.com, Fallahi, Jafar² (AUTHOR), Razban, Vahid^2,3 (AUTHOR), Sirat, Reyhaneh Zayyani⁴ (AUTHOR), Varasteh, Mahnaz⁴ (AUTHOR), Tarhriz, Vahideh⁵ (AUTHOR)

المصدر: Cell Biochemistry & Function. Jun2024, Vol. 42 Issue 4, p1-24. 24p.

مصطلحات موضوعية: *NIEMANN-Pick diseases, *LYSOSOMAL storage diseases, *THERAPEUTICS, *BONE marrow cells, *SYMPTOMS

المؤلفون: Pulse Infoframe Ltd.

المصدر: A Prospective Observational Study to Assess the Long-term Safety and Immunogenicity of Olipudase Alfa Therapy During Routine Clinical Care in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency

المصدر: Arimoclomol Prospective Double-blind, Randomised, Placebo-controlled Study in Patients Diagnosed With Niemann-Pick Disease Type C
Patterson MC, Lloyd-Price L, Guldberg C, Doll H, Burbridge C, Chladek M, iDali C, Mengel E, Symonds T. Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale. Orphanet J Rare Dis. 2021 Feb 12;16(1):79. doi: 10.1186/s13023-021-01719-2.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Gronborg S, Harmatz P, Heron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsoe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, I Dali C. Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment. J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7.

المصدر: Acid Sphingomyelinase Deficiency (ASMD): Data Analysis of Adult and Pediatric Patients on Early Access to Olipudase Alfa in France

المصدر: A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency

المصدر: Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C

المصدر: An Observational National Pediatric Study on Prevalence of Unexplained Splenomegaly

المؤلفون: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Alexion Pharmaceuticals, Inc., Ara Parseghian Medical Research Foundation, BioMarin Pharmaceutical, Cure Sanfilippo Foundation, Danas Angels Research Trust (DART), Mirum Pharmaceuticals, Inc., Orchard Therapeutics, Passage Bio, Inc., Genzyme, a Sanofi Company, Sio Gene Therapies, Takeda Pharmaceuticals North America, Inc., The FireFly Fund, The Noah's Hope - Hope 4 Bridget Family Foundations, Travere Therapeutics, Inc., Ultragenyx Pharmaceutical Inc

المصدر: ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Kelly NR, Orsini JJ, Goldenberg AJ, Mulrooney NS, Boychuk NA, Clarke MJ, Paleologos K, Martin MM, McNeight H, Caggana M, Bailey SM, Eiland LR, Ganesh J, Kupchik G, Lumba R, Nafday S, Stroustrup A, Gelb MH, Wasserstein MP. ScreenPlus: A comprehensive, multi-disorder newborn screening program. Mol Genet Metab Rep. 2023 Dec 14;38:101037. doi: 10.1016/j.ymgmr.2023.101037. eCollection 2024 Mar.
Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle C, Watson M, Trotter T, Terry SF, Howell RR; Advisory Committee on Heritable Disorders in Newborns and Children. Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med. 2010 Mar;12(3):153-9. doi: 10.1097/GIM.0b013e3181d2af04.
Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10.

المساهمون: Joanne Kurtzberg, MD, Professor of Pediatrics

المصدر: Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases with Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells

المؤلفون: Farhat, Nicole Y.¹ (AUTHOR) nicole.farhat@nih.gov, Alexander, Derek¹ (AUTHOR) derek.alexander@nih.gov, McKee, Kyli¹ (AUTHOR) kyli.a.mckee@gmail.com, Iben, James² (AUTHOR) james.iben@nih.gov, Rodriguez-Gil, Jorge L.³ (AUTHOR) jrgil@stanford.edu, Wassif, Christopher A.¹ (AUTHOR) christopher.wassif@astrazeneca.com, Cawley, Niamh X.¹ (AUTHOR) cawleyn@mail.nih.gov, Balch, William E.⁴ (AUTHOR) webalch@scripps.edu, Porter, Forbes D.¹ (AUTHOR) fdporter@mail.nih.gov

المصدر: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 8, p4217. 14p.

مصطلحات موضوعية: *NIEMANN-Pick diseases, *LYSOSOMAL storage diseases, *GENE expression, *NATURAL history, *AGE of onset