Works matching Niemann-Pick Disease

Results: 1467

Lung cyst: An unusual manifestation of Niemann–Pick disease.

Published in:

Respirology, 2009, v. 14, n. 1, p. 134, doi. 10.1111/j.1440-1843.2008.01352.x

By:

BALDI, Bruno G.;
SANTANA, Alfredo N.C.;
TAKAGAKI, Teresa Y.;
FUJITA, Carmem;
KAIRALLA, Ronaldo A.;
CARVALHO, Carlos R.R.

Publication type:

Article

Вариация на cherry red spot при болестта на Niemann-Pick – клиничен случай.

Published in:

Medical Review / Meditsinski Pregled, 2023, v. 59, n. 4, p. 60

By:

Оскар, А.;
Славчев, С.;
Импалиатели, П.;
Лазарова, Е.;
Марков, Г.;
Димитрова, Г.

Publication type:

Article

Niemann-Pick hastalaca tip A ve tip B: İki olgu sunumu.

Published in:

Marmara Medical Journal, 2014, v. 27, n. 1, p. 54, doi. 10.5472/MMJ.2013.02845.2

By:

ZORLU, Pelin;
UÇAR, Şit;
YARALI, Nece;
DEMİRÇEKEN, Fulya

Publication type:

Article

Two Cases of Niemann-Pick Disease Type C Presenting with Neonatal Cholestasis: Case Reports.

Published in:

2023

By:

Bhanu, Yaseena;
Kasula, Linga Reddy;
Kotha, Rakesh;
Madireddy, Alimelu

Publication type:

Case Study

Manifestações clínicas presentes na doença de Niemann-Pick tipo c em diferentes faixas etárias: uma revisão da literatura.

Published in:

Revista Sustinere, 2021, v. 9, p. 173, doi. 10.12957/sustinere.2021.50914

By:

Lira da Silva, Barbara Beatriz;
Rodrigues Alves, Ana Klara;
de Brito Pereira, Raquel;
Rodrigues Alve, Ana Karla;
Sampaio Teixeira, Kelly Sivocy

Publication type:

Article

Niemann–Pick disease type C1 presenting with psychosis in an adolescent male.

Published in:

2009

By:

Sandu, Sabine;
Jackowski-Dohrmann, Sabine;
Ladner, Axel;
Haberhausen, Michael;
Bachmann, Christian

Publication type:

Report

Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches.

Published in:

Cell Biochemistry & Function, 2024, v. 42, n. 4, p. 1, doi. 10.1002/cbf.4028

By:

Hosseini, Kamran;
Fallahi, Jafar;
Razban, Vahid;
Sirat, Reyhaneh Zayyani;
Varasteh, Mahnaz;
Tarhriz, Vahideh

Publication type:

Article

Niemann- Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case.

Published in:

Neuropathology, 2014, v. 34, n. 1, p. 49, doi. 10.1111/neup.12047

By:

Chiba, Yoichi;
Komori, Hiraku;
Takei, Shiro;
Hasegawa‐Ishii, Sanae;
Kawamura, Noriko;
Adachi, Kaori;
Nanba, Eiji;
Hosokawa, Masanori;
Enokido, Yasushi;
Kouchi, Zen;
Yoshida, Futoshi;
Shimada, Atsuyoshi

Publication type:

Article

Niemann-Pick disease.

Published in:

International Journal of Child Health & Human Development, 2020, v. 13, n. 3, p. 273

By:

Saeedian, Jasmine;
Hekmatjah, Joshua

Publication type:

Article

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 543, doi. 10.1111/cge.12200

By:

Mavridou, I.;
Cozar, M.;
Douzgou, S.;
Xaidara, A.;
Lianou, D.;
Vanier, M.T.;
Dimitriou, E.;
Grinberg, D.;
Vilageliu, L.;
Michelakakis, H.

Publication type:

Article

Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 356, doi. 10.1111/cge.12076

By:

Irun, P;
Mallén, M;
Dominguez, C;
Rodriguez‐Sureda, V;
Alvarez‐Sala, LA;
Arslan, N;
Bermejo, N;
Guerrero, C;
Perez de Soto, I;
Villalón, L;
Giraldo, P;
Pocovi, M

Publication type:

Article

Case Report: Be Aware of "New" Features of Niemann–Pick Disease: Insights From Two Pediatric Cases.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.845246

By:

Chen, Fan;
Guo, Shan;
Li, Xuesong;
Liu, Shengxuan;
Wang, Li;
Zhang, Victor Wei;
Xu, Hui;
Huang, Zhihua;
Ying, Yanqin;
Shu, Sainan

Publication type:

Article

Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review.

Published in:

Lung (0341-2040), 2016, v. 194, n. 4, p. 511, doi. 10.1007/s00408-016-9893-0

By:

Ranke, Felipe;
Pereira Freitas, Heloisa;
Mançano, Alexandre;
Rodrigues, Rosana;
Hochhegger, Bruno;
Escuissato, Dante;
Araujo Neto, Cesar;
Silva, Thiago;
Marchiori, Edson

Publication type:

Article

Niemann-Pick disease type C2 protein induces autophagy and inhibits growth in FM3A breast cancer cells.

Published in:

Drug Discoveries & Therapeutics, 2015, v. 9, n. 4, p. 282, doi. 10.5582/ddt.2015.01014

By:

Adachi, Tatsuo;
Matsumoto, Yasuhiko;
Inagaki, Yoshinori;
Sekimizu, Kazuhisa

Publication type:

Article

Priapism associated with Niemann-Pick disease in a 15-year-old boy.

Published in:

2011

By:

V., Krishna Shetty M.;
M., Udaya Kumar;
Sen, T. K.

Publication type:

Case Study

First prenatal Diagnosis of a Niemann–pick Disease type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature.

Published in:

2018

By:

Ples, Liana;
Sima, Romina-Marina;
Nedelea, Florina;
Moga, Marius

Publication type:

Case Study

A Case with Niemann-Pick Disease and Concomitant Kartagener's Syndrome.

Published in:

Erciyes Medical Journal / Erciyes Tip Dergisi, 2013, v. 35, n. 3, p. 174, doi. 10.5152/etd.2013.29

By:

Keklik, Muzaffer;
Şıvgın, Serdar;
Baldane, Süleyman;
Yıldırım, Afra;
Kontaş, Olgun;
Kardaş, Fatih;
Pala, Çiğdem;
Çetin, Mustafa;
Ünal, Ali

Publication type:

Article

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.

Published in:

BMC Infectious Diseases, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12879-024-09025-5

By:

Tao, Chaoxin;
Zhao, Min;
Zhang, Xiaohui;
Hao, Jihong;
Huo, Qiuyue;
Sun, Jie;
Xing, Jiangtao;
Zhang, Yuna;
Zhao, Jianhong;
Huang, Huaipeng

Publication type:

Article

Systemic lupus erythematosus occurring in a patient with Niemann–Pick type B disease.

Published in:

2015

By:

Murgia, G.;
Firinu, D.;
Meleddu, R.;
Lorrai, M. M.;
Manconi, P. E.;
del Giacco, S. R.

Publication type:

Case Study

Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C: Iranian Pediatric Case Series.

Published in:

2013

By:

Karimzadeh, Parvaneh;
Tonekaboni, Seyed Hassan;
Ashrafi, Mahmoud Reza;
Shafeghati, Yousef;
Rezayi, Alireza;
Salehpour, Shadab;
Ghofrani, Mohammad;
Taghdiri, Mohammad Mehdi;
Rahmanifar, Ali;
Zaman, Talieh;
Aryani, Omid;
Shoar, Babak Najaf;
Shiva, Farideh;
Tavasoli, Alireza;
Houshmand, Massoud

Publication type:

Case Study

Niemann-Pick Disease Type C: Implications for Sedation and Anesthesia for Diagnostic Procedures.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 12, p. 1541, doi. 10.1177/0883073812437243

By:

Miao, Ning;
Lu, Xiaowei;
O’Grady, Naomi P.;
Yanjanin, Nicole;
Porter, Forbes D.;
Quezado, Zenaide M. N.

Publication type:

Article

Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann–Pick disease type A.

Published in:

Journal of Neurochemistry, 2009, v. 109, n. 1, p. 105, doi. 10.1111/j.1471-4159.2009.05947.x

By:

Buccinnà, Barbara;
Piccinini, Marco;
Prinetti, Alessandro;
Scandroglio, Federica;
Prioni, Simona;
Valsecchi, Manuela;
Votta, Barbara;
Grifoni, Silvia;
Lupino, Elisa;
Ramondetti, Cristina;
Schuchman, Edward H.;
Giordana, Maria Teresa;
Sonnino, Sandro;
Rinaudo, Maria Teresa

Publication type:

Article

Novel Mutation in the Feline NPC2 Gene in Cats with Niemann–Pick Disease.

Published in:

Animals (2076-2615), 2023, v. 13, n. 11, p. 1744, doi. 10.3390/ani13111744

By:

Rakib, Tofazzal Md;
Islam, Md Shafiqul;
Uddin, Mohammad Mejbah;
Rahman, Mohammad Mahbubur;
Yabuki, Akira;
Yamagami, Tetsushi;
Morozumi, Motoji;
Uchida, Kazuyuki;
Maki, Shinichiro;
Faruq, Abdullah Al;
Yamato, Osamu

Publication type:

Article

Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.

Published in:

2016

By:

Cuisset, Jean-Marie;
Sukno, S.;
Trauffler, A.;
Latour, P.;
Dobbelaere, D.;
Michaud, L;
Vallée, L.

Publication type:

journal article

Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.

Published in:

2016

By:

Degtyareva, A. V.;
Mikhailova, S. V.;
Zakharova, E. Y.;
Tumanova, E. L.;
Puchkova, A. A.

Publication type:

journal article

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 3, p. 300, doi. 10.1177/0883073809344222

By:

Patterson, Marc C.;
Vecchio, Darleen;
Jacklin, Elizabeth;
Abel, Larry;
Chadha-Boreham, Harbajan;
Luzy, Cecile;
Giorgino, Ruben;
Wraith, James E.

Publication type:

Article

Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report.

Published in:

2012

By:

Skorpen, Johannes;
Helland, Ingrid B.;
Tenn›e, Bj›rn;
Tennøe, Bjørn

Publication type:

journal article

Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brain.

Published in:

Journal of Pathology, 2003, v. 200, n. 1, p. 104, doi. 10.1002/path.1320

By:

Distl, Roland;
Treiber-Held, Stephanie;
Albert, Frank;
Meske, Volker;
Harzer, Klaus;
Ohm, Thomas G

Publication type:

Article

Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients.

Published in:

Pakistan Journal of Medical Sciences, 2020, v. 36, n. 3, p. 479, doi. 10.12669/pjms.36.3.467

By:

Cheema, Huma Arshad;
Rasool, Iqra Ghulam;
Anjum, Muhammad Nadeem;
Zahoor, Muhammad Yasir

Publication type:

Article

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1.

Published in:

BMC Biology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12915-021-01133-x

By:

Prabhu, Anika V.;
Kang, Insung;
De Pace, Raffaella;
Wassif, Christopher A.;
Fujiwara, Hideji;
Kell, Pamela;
Jiang, Xuntian;
Ory, Daniel S.;
Bonifacino, Juan S.;
Ward, Michael E.;
Porter, Forbes D.

Publication type:

Article

Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins.

Published in:

Journal of Neurology, 2015, v. 262, n. 3, p. 642, doi. 10.1007/s00415-014-7619-x

By:

Benussi, Alberto;
Alberici, Antonella;
Premi, Enrico;
Bertasi, Valeria;
Cotelli, Maria;
Turla, Marinella;
Dardis, Andrea;
Zampieri, Stefania;
Marchina, Eleonora;
Paghera, Barbara;
Gallivanone, Francesca;
Castiglioni, Isabella;
Padovani, Alessandro;
Borroni, Barbara

Publication type:

Article

Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00043-0

By:

Neissi, Mostafa;
Al-Badran, Adnan Issa;
Mohammadi-Asl, Misagh;
Al-Badran, Raed Abdulelah;
Sheikh-Hosseini, Motahareh;
Roghani, Mojdeh;
Mohammadi-Asl, Javad

Publication type:

Article

Náhodný nález splenomegalie jako hlavní příznak vedoucí k diagnóze Niemann-Pickovy choroby typu B u dospělého pacienta.

Published in:

Medicina Pro Praxi, 2023, v. 20, n. 2, p. 112, doi. 10.36290/med.2023.016

By:

Ješina, Pavel;
Kopecká, Alena

Publication type:

Article

Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene.

Published in:

Veterinary Pathology, 2020, v. 57, n. 4, p. 559, doi. 10.1177/0300985820921810

By:

Takaichi, Yuta;
Chambers, James K.;
Kok, Mun Keong;
Uchiyama, Hiroki;
Haritani, Makoto;
Hasegawa, Daisuke;
Nakayama, Hiroyuki;
Uchida, Kazuyuki

Publication type:

Article

Reporting preclinical gene therapy studies in the field of Niemann-Pick type C disease according to the ARRIVE guidelines.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03479-1

By:

Rasmussen, Charlotte Laurfelt Munch;
Burkhart, Annette;
Moos, Torben;
Thomsen, Louiza Bohn

Publication type:

Article

Iron chelation by deferiprone does not rescue the Niemann-Pick Disease Type C1 mouse model.

Published in:

BioMetals, 2020, v. 33, n. 2/3, p. 87, doi. 10.1007/s10534-020-00233-5

By:

Hung, Ya Hui;
Lotan, Amit;
Yeshurun, Shlomo;
Schroeder, Anna;
Bush, Ashley I.

Publication type:

Article

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030039

By:

Kubaski, Francyne;
Burlina, Alberto;
Polo, Giulia;
Pereira, Danilo;
Herbst, Zackary M.;
Silva, Camilo;
Trapp, Franciele B.;
Michelin-Tirelli, Kristiane;
Lopes, Franciele F.;
Burin, Maira G.;
Brusius-Facchin, Ana Carolina;
Netto, Alice B. O.;
Faqueti, Larissa;
Iop, Gabrielle D.;
Poletto, Edina;
Giugliani, Roberto

Publication type:

Article

The mind's eye: A neuro-ophthalmological perspective on Niemann-Pick type C disease.

Published in:

African Vision & Eye Health, 2019, v. 78, n. 1, p. 1, doi. 10.4102/aveh.v78i1.502

By:

Beedasy, Priyanka;
Moodley, Anand;
Marais, Adrian D.

Publication type:

Article

Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells.

Published in:

Metabolites (2218-1989), 2024, v. 14, n. 10, p. 515, doi. 10.3390/metabo14100515

By:

Watanabe, Masahiro;
Maekawa, Masamitsu;
Miyoshi, Keitaro;
Sato, Toshihiro;
Sato, Yu;
Kumondai, Masaki;
Fukasawa, Masayoshi;
Mano, Nariyasu

Publication type:

Article

Niemann-Pick disease type C in the newborn period: a single-center experience.

Published in:

2017

By:

Gumus, Ersin;
Haliloglu, Goknur;
Karhan, Asuman;
Demir, Hulya;
Gurakan, Figen;
Topcu, Meral;
Yuce, Aysel;
Karhan, Asuman Nur

Publication type:

journal article

A Potential Role for the Amyloid Precursor Protein in the Regulation of Interferon Signaling, Cholesterol Homeostasis, and Tau Phosphorylation in Niemann–Pick Disease Type C.

Published in:

Genes, 2024, v. 15, n. 8, p. 1066, doi. 10.3390/genes15081066

By:

Sanchez, Kayla L.;
Shin, Samuel D.;
Rajagopal, Naren P.;
White, Jacob B.;
Currais, Antonio;
Soriano-Castell, David;
Maher, Pamela;
Soriano, Salvador

Publication type:

Article

Differential Interferon Signaling Regulation and Oxidative Stress Responses in the Cerebral Cortex and Cerebellum Could Account for the Spatiotemporal Pattern of Neurodegeneration in Niemann–Pick Disease Type C.

Published in:

Genes, 2024, v. 15, n. 1, p. 101, doi. 10.3390/genes15010101

By:

Tolan, Andrew J.;
Sanchez, Kayla L.;
Shin, Samuel D.;
White, Jacob B.;
Currais, Antonio;
Soriano-Castell, David;
Wilson, Christopher G.;
Maher, Pamela;
Soriano, Salvador

Publication type:

Article

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.

Published in:

European Neurology, 2016, v. 75, n. 3/4, p. 113, doi. 10.1159/000444480

By:

Chamova, Teodora;
Kirov, andrey;
Guergueltcheva, Velina;
Todorov, Тihomir;
Bojinova, Veneta;
Zhelyazkova, Sashka;
Samuel, Jean;
Radionova, Melania;
Sarafov, Stayko;
Cherninkova, Sylvia;
Krastev, Stefan;
Todorova, Аlbena;
Tournev, Ivailo

Publication type:

Article

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis.

Published in:

2019

By:

Hastings, Caroline;
Vieira, Camilo;
Liu, Benny;
Bascon, Cyrus;
Gao, Claire;
Wang, Raymond Y.;
Casey, Alicia;
Hrynkow, Sharon

Publication type:

journal article

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.

Published in:

2019

By:

Pineda, Mercedes;
Juríčková, Katarína;
Karimzadeh, Parvaneh;
Kolniková, Miriam;
Malinová, Věra;
Torres, Juan;
Kolb, Stefan A.

Publication type:

journal article

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.

Published in:

2019

By:

Pineda, Mercedes;
Juríčková, Katarína;
Karimzadeh, Parvaneh;
Kolnikova, Miriam;
Malinova, Vera;
Insua, Jose Luis;
Velten, Christian;
Kolb, Stefan A.

Publication type:

journal article

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Published in:

2019

By:

Sobrido, María-Jesús;
Bauer, Peter;
de Koning, Tom;
Klopstock, Thomas;
Nadjar, Yann;
Patterson, Marc C;
Synofzik, Matthis;
Hendriksz, Chris J

Publication type:

journal article

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Published in:

2018

By:

Nadjar, Yann;
Hütter-Moncada, Ana Lucia;
Latour, Philippe;
Ayrignac, Xavier;
Kaphan, Elsa;
Tranchant, Christine;
Cintas, Pascal;
Degardin, Adrian;
Goizet, Cyril;
Laurencin, Chloe;
Martzolff, Lionel;
Tilikete, Caroline;
Anheim, Mathieu;
Audoin, Bertrand;
Deramecourt, Vincent;
De Gaillarbois, Thierry Dubard;
Roze, Emmanuel;
Lamari, Foudil;
Vanier, Marie T.;
Héron, Bénédicte

Publication type:

journal article

Miglustat in Niemann-Pick disease type C patients: a review.

Published in:

2018

By:

Pineda, Mercè;
Walterfang, Mark;
Patterson, Marc C.;
Pineda, Mercè

Publication type:

journal article

Cognitive impairment profile in adult patients with Niemann pick type C disease.

Published in:

2017

By:

Heitz, Camille;
Epelbaum, Stéphane;
Nadjar, Yann

Publication type:

journal article