Works matching Sphingolipidoses

Results: 198

Sfingolipit depo hastalıklarında enzim inhibitörlerinin tedavide kullanımları.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2010, v. 53, n. 3, p. 236

By:

Sinici, İncilay

Publication type:

Article

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.

Published in:

Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 3, p. 403, doi. 10.1515/cclm-2016-0340

By:

Polo, Giulia;
Burlina, Alessandro P.;
Kolamunnage, Thilini B.;
Zampieri, Michele;
Dionisi-Vici, Carlo;
Strisciuglio, Pietro;
Zaninotto, Martina;
Plebani, Mario;
Burlina, Alberto B.

Publication type:

Article

Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer.

Published in:

Cancers, 2022, v. 14, n. 19, p. 4858, doi. 10.3390/cancers14194858

By:

Dubot, Patricia;
Astudillo, Leonardo;
Therville, Nicole;
Carrié, Lorry;
Pettazzoni, Magali;
Cheillan, David;
Stirnemann, Jérôme;
Levade, Thierry;
Andrieu-Abadie, Nathalie;
Sabourdy, Frédérique

Publication type:

Article

Practical Enzymology of the Sphingolipidoses.

Published in:

1978

By:

Barnard, R. O.

Publication type:

Book Review

Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses.

Published in:

Science Translational Medicine, 2016, v. 8, n. 355, p. 1, doi. 10.1126/scitranslmed.aad9823

By:

Kirkegaard, Thomas;
Gray, James;
Priestman, David A.;
Wallom, Kerri-Lee;
Atkins, Jennifer;
Olsen, Ole Dines;
Klein, Alexander;
Drndarski, Svetlana;
Petersen, Nikolaj H. T.;
Ingemann, Linda;
Smith, David A.;
Morris, Lauren;
Bornæs, Claus;
Jørgensen, Signe Humle;
Williams, Ian;
Hinsby, Anders;
Arenz, Christoph;
Begley, David;
Jäättelä, Marja;
Platt, Frances M.

Publication type:

Article

Kunihiko Suzuki and sphingolipidoses.

Published in:

Journal of Biochemistry, 2011, v. 150, n. 6, p. 597, doi. 10.1093/jb/mvr127

By:

Ohno, Kousaku

Publication type:

Article

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 12, p. 1612, doi. 10.3390/biom14121612

By:

Martineau, Tristan;
Maranda, Bruno;
Auray-Blais, Christiane

Publication type:

Article

Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 23, p. 5897, doi. 10.3390/ijms20235897

By:

Santos, Renato;
Amaral, Olga

Publication type:

Article

Sphingolipidoses and Retinal Involvement: A Comprehensive Review.

Published in:

2025

By:

Carrozzi, Chiara;
Fumi, Daniele;
Fasciolo, Davide;
Di Tizio, Federico;
Fragiotta, Serena;
Di Pippo, Mariachiara;
Abdolrahimzadeh, Solmaz

Publication type:

Literature Review

The Relative Frequency of Lysosomal Storage Disorders: A Medical Genetics Referral Laboratory’s Experience From India.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 10, p. 1377, doi. 10.1177/0883073813515075

By:

Kadali, Srilatha;
Kolusu, Anusha;
Gummadi, Maheshwar Reddy;
Undamatla, Jayanthi

Publication type:

Article

In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 11, p. 3409, doi. 10.3390/ijms19113409

By:

Duarte, Ana Joana;
Ribeiro, Diogo;
Moreira, Luciana;
Amaral, Olga

Publication type:

Article

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Published in:

PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0181700

By:

Pettazzoni, Magali;
Froissart, Roseline;
Pagan, Cécile;
Vanier, Marie T.;
Ruet, Séverine;
Latour, Philippe;
Guffon, Nathalie;
Fouilhoux, Alain;
Germain, Dominique P.;
Levade, Thierry;
Vianey-Saban, Christine;
Piraud, Monique;
Cheillan, David

Publication type:

Article

Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish.

Published in:

2023

By:

Mignani, Luca;
Guerra, Jessica;
Corli, Marzia;
Capoferri, Davide;
Presta, Marco

Publication type:

Literature Review

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.

Published in:

Clinical Chemistry & Laboratory Medicine, 2019, v. 57, n. 12, p. 1863, doi. 10.1515/cclm-2018-1301

By:

Polo, Giulia;
Burlina, Alessandro P.;
Ranieri, Enzo;
Colucci, Francesca;
Rubert, Laura;
Pascarella, Antonia;
Duro, Giovanni;
Tummolo, Albina;
Padoan, Andrea;
Plebani, Mario;
Burlina, Alberto B.

Publication type:

Article

Innate immune responses in the brain of sphingolipid lysosomal storage diseases.

Published in:

Biological Chemistry, 2015, v. 396, n. 6/7, p. 659, doi. 10.1515/hsz-2014-0301

By:

Vitner, Einat B.;
Futerman, Anthony H.;
Platt, Nick

Publication type:

Article

Angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's syndrome.

Published in:

Clinical & Experimental Dermatology, 1992, v. 17, n. 1, p. 56, doi. 10.1111/j.1365-2230.1992.tb02537.x

By:

Gasparini, G.;
Sarchi, G.;
Cavicchini, S.;
Bertagnolio, B.

Publication type:

Article

Terapia de reemplazo enzimático en una paciente con enfermedad de Gaucher tipo III.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 1, p. 9

By:

Carbajal-Rodríguez, Luis;
Gómez-González, Fernanda;
Rodríguez-Herrera, Raymundo;
Zarco-Román, Jorge;
Mora-Tiscareño, Antonieta

Publication type:

Article

Pathology of Glycosphingolipid Metabolism: The Molecular and Cellular Basis of Neurodegenerative Disease.

Published in:

Neuroscientist, 2000, v. 6, n. 4, p. 285, doi. 10.1177/107385840000600411

By:

Wendeler, Michaela;
Kolter, Thomas;
Sandhoff, Konrad

Publication type:

Article

Reversal of an Inborn Sphingolipidosis (Fabry's Disease) by Kidney Transplantation.

Published in:

Annals of Internal Medicine, 1972, v. 77, n. 2, p. 195, doi. 10.7326/0003-4819-77-2-195

By:

Philippart, Michel;
Franklin, Stanley S.;
Gordon, Arthur

Publication type:

Article

I-cell disease--mucolipidosis II.

Published in:

1973

By:

Gordon, Neil;
Gordon, N

Publication type:

journal article

Guillain - Barré syndrome associated with monosialotetrahexosylganglioside: three cases study and literature review.

Published in:

2013

By:

JIANG Ke;
WANG Xue-feng;
ZENG Ke-bin

Publication type:

Back Cover

Changes in the Human Metabolome Associated With Alcohol Use: A Review.

Published in:

Alcohol & Alcoholism, 2019, v. 54, n. 3, p. 225, doi. 10.1093/alcalc/agz030

By:

Voutilainen, Taija;
Kärkkäinen, Olli

Publication type:

Article

FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.

Published in:

Clinical Kidney Journal, 2016, v. 9, n. 5, p. 739, doi. 10.1093/ckj/sfw082

By:

Mignani, Renzo;
Pieruzzi, Federico;
Berri, Francesco;
Burlina, Alessandro;
Chinea, Benito;
Gallieni, Maurizio;
Pieroni, Maurizio;
Salviati, Alessandro;
Spada, Marco

Publication type:

Article

Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases.

Published in:

Nature Cell Biology, 1999, v. 1, n. 6, p. 386, doi. 10.1038/14084

By:

Puri, Vishwajeet;
Watanabe, Rikio;
Dominguez, Michel;
Sun, Xiaofeng;
Wheatley, Christine L.;
Marks, David L.;
Pagano, Richard E.

Publication type:

Article

Glycerophospholipids in Red Blood Cells Are Associated with Aerobic Performance in Young Swimmers.

Published in:

Nutrients, 2024, v. 16, n. 6, p. 765, doi. 10.3390/nu16060765

By:

Silva, Álex Aparecido Rosini;
Bertolucci, Vanessa;
Scariot, Pedro Paulo Menezes;
da Cruz, João Pedro;
Mendes, Flavio Marcio Macedo;
de Oliveira, Danilo Cardoso;
Plumari, Catharina Delry;
Dos Reis, Ivan Gustavo Masseli;
Porcari, Andreia Melo;
Messias, Leonardo Henrique Dalcheco

Publication type:

Article

The Differential Diagnosis of "Tigroid Pattern" on Brain Magnetic Resonance Imaging: A Case Report.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2019, v. 25, n. 2, p. 98, doi. 10.4274/tnd.2019.89577

By:

Akçakaya, Nihan Hande

Publication type:

Article

Gaucher Disease: An overview in relation to cases treated in Al Emamayn Al Khadimayn Medical City, Rare disease unit.

Published in:

EurAsian Journal of Biosciences, 2020, v. 14, n. 1, p. 2279

By:

Al-Tai, Mays Riyadh;
Arif, Hala Sameh;
Hallumy, Ammar Mohammed

Publication type:

Article

The Ethics of Krabbe Newborn Screening.

Published in:

Public Health Ethics, 2013, v. 6, n. 1, p. 114, doi. 10.1093/phe/phs033

By:

Dees, Richard H.;
Kwon, Jennifer M.

Publication type:

Article

Krabbe Newborn Screening: The Issue of Informed Consent.

Published in:

Public Health Ethics, 2013, v. 6, n. 1, p. 126, doi. 10.1093/phe/pht009

By:

Nijsingh, Niels

Publication type:

Article

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.

Published in:

2019

By:

Beltran-Quintero, Maria L.;
Bascou, Nicholas A.;
Poe, Michele D.;
Wenger, David A.;
Saavedra-Matiz, Carlos A.;
Nichols, Matthew J.;
Escolar, Maria L.

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

Extensive telangiectasias and mongolian spots: A clue towards GM1-gangliosidosis.

Published in:

Indian Journal of Dermatology, 2023, v. 68, n. 5, p. 573, doi. 10.4103/ijd.ijd_52_23

By:

Gupta, Sachin;
Patel, Varniraj;
Garg, Shivangi;
Mehta, Nikhil

Publication type:

Article

GM1 GANGLIOSIDOSIS ASSOCIATED WITH NEONATAL-ONSET OF DIFFUSE ECCHYMOSES AND MONGOLIAN SPOTS.

Published in:

Indian Journal of Dermatology, 2011, v. 56, n. 1, p. 98, doi. 10.4103/0019-5154.77567

By:

Dweikat, Imad;
Libdeh, Bassam Abu;
Murrar, Hanadi;
Khalil, Samir;
Maraqa, Nizar

Publication type:

Article

Extracellular production of a sphingomyelinase from Streptomyces griseocarneus using Streptomyces lividans.

Published in:

Biotechnology Letters, 2011, v. 33, n. 4, p. 727, doi. 10.1007/s10529-010-0480-9

By:

Sugimori, Daisuke;
Tomita, Yu;
Matsumoto, Yusaku;
Ogino, Chiaki

Publication type:

Article

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 30, doi. 10.3390/ijns11020030

By:

Malvagia, Sabrina;
Bettiol, Alessandra;
Porcaro, Margherita;
Mura, Massimo;
Funghini, Silvia;
Ombrone, Daniela;
Forni, Giulia;
Scolamiero, Emanuela;
Coppi, Filippo;
Damiano, Roberta;
Cereda, Cristina;
Simonetti, Simonetta;
Lonetti, Annalisa;
Daniotti, Marta;
Caciotti, Anna;
Morrone, Amelia;
Calbi, Valeria;
Fumagalli, Francesca;
Aiuti, Alessandro;
Procopio, Elena

Publication type:

Article

Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 45, doi. 10.3390/ijns10030045

By:

Bean, Karen;
Jones, Simon A.;
Chakrapani, Anupam;
Vijay, Suresh;
Wu, Teresa;
Church, Heather;
Chanson, Charlotte;
Olaye, Andrew;
Miller, Beckley;
Jensen, Ivar;
Pang, Francis

Publication type:

Article

Effects of sphingoid bases on the sphingolipidome in early keratinocyte differentiation.

Published in:

Experimental Dermatology, 2013, v. 22, n. 10, p. 677, doi. 10.1111/exd.12231

By:

Sigruener, Alexander;
Tarabin, Victoria;
Paragh, György;
Liebisch, Gerhard;
Koehler, Tim;
Farwick, Mike;
Schmitz, Gerd

Publication type:

Article

GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography.

Published in:

Iranian Journal of Child Neurology, 2024, v. 18, n. 2, p. 127, doi. 10.22037/ijcn.v18i2.40751

By:

KARIMZADEH, Parvaneh;
EBRAHIMI, Masomeh;
ETEMAD, Korosh;
AHMAD ABADI, Farzad;
HOSSEINI NEZHAD, Zahra

Publication type:

Article

Über eine Sphingolipidose mit Anreicherung von neutralen Glykosphingolipiden, A02(GM3)- und A1(GM2)-ganglisoid.

Published in:

Clinical Chemistry & Laboratory Medicine, 1974, v. 12, n. 11, p. 487

By:

Kerènyi, L.;
Kannan, R.;
Glelen, W.;
Debuch, Hildegard

Publication type:

Article

Doenças raras e práticas de Saúde Coletiva: relato de experiência na formação médica.

Published in:

Revista de Atencao Primaria a Saude, 2021, v. 24, n. 4, p. 780

By:

Bedin, Karine;
Carvalho e. Silva, Maria Joana;
Guerra, Paulo Henrique;
Oliveira Friestino, Jane Kelly

Publication type:

Article

Recent Advances in the Biochemistry of Sphingolipidoses.

Published in:

Brain Pathology, 1998, v. 8, n. 1, p. 79, doi. 10.1111/j.1750-3639.1998.tb00138.x

By:

Kolter, Thomas;
Sandhoff, Konrad

Publication type:

Article

The Sphingolipid Psychosine Inhibits Fast Axonal Transport in Krabbe Disease by Activation of GSK3β and Deregulation of Molecular Motors.

Published in:

Journal of Neuroscience, 2013, v. 33, n. 24, p. 10048, doi. 10.1523/JNEUROSCI.0217-13.2013

By:

Castelvetri, Ludovico Cantuti;
Givogri, Maria I.;
Hebert, Amy;
Smith, Benjamin;
Song, Yuyu;
Kaminska, Agnieszka;
Lopez-Rosas, Aurora;
Morfini, Gerardo;
Pigino, Gustavo;
Sands, Mark;
Brady, Scott T.;
Bongarzone, Ernesto R.

Publication type:

Article

My journey into the world of sphingolipids and sphingolipidoses.

Published in:

Proceedings of the Japan Academy, Series B Physical & biological sciences, 2012, v. 88, n. 10, p. 554, doi. 10.2183/pjab.88.554

By:

SANDHOFF, Konrad

Publication type:

Article

Anaesthesia recommendations for Metachromatic leukodystrophy.

Published in:: Anaesthesiologie & Intensivmedizin, 2023, v. 64, p. S142, doi. 10.19224/ai2023.S142
Publication type:: Article

Anaesthesia recommendations for Metachromatic leukodystrophy.

Published in:

Anaesthesiologie & Intensivmedizin, 2023, v. 64, n. 4, p. S142, doi. 10.19224/ai2023.S142

By:

Kanani, Shivan;
Raviraj, Divya

Publication type:

Article

Syndromic Conundrums in Diabetes: Seek and Ye Shall Find: The Dorfman-Chanarin Syndrome.

Published in:

2021

By:

Bronson, Stephen Charles;
Shanmugam, Alagianambi;
Mythili, Chelliah

Publication type:

Case Study

Anderson-Fabry Disease in Females.

Published in:

BANTAO Journal, 2014, v. 12, n. 1, p. 20

By:

Kes, Petar;
Furic-Curko, Vesna;
Basic-Jukic, Nikolina

Publication type:

Article

Development of a bile acid–based newborn screen for Niemann-Pick disease type C.

Published in:

Science Translational Medicine, 2016, v. 8, n. 337, p. 1, doi. 10.1126/scitranslmed.aaf2326

By:

Xuntian Jiang;
Sidhu, Rohini;
Mydock-McGrane, Laurel;
Fong-Fu Hsu;
Covey, Douglas F.;
Scherrer, David E.;
Earley, Brian;
Gale, Sarah E.;
Farhat, Nicole Y.;
Porter, Forbes D.;
Dietzen, Dennis J.;
Orsini, Joseph J.;
Berry-Kravis, Elizabeth;
Xiaokui Zhang;
Reunert, Janice;
Marquardt, Thorsten;
Runz, Heiko;
Giugliani, Roberto;
Schaffer, Jean E.;
Ory, Daniel S.

Publication type:

Article

Nutrients, Physical Activity, and Mitochondrial Dysfunction in the Setting of Metabolic Syndrome.

Published in:

Nutrients, 2023, v. 15, n. 5, p. 1217, doi. 10.3390/nu15051217

By:

Lemos, Gabriela de Oliveira;
Torrinhas, Raquel Susana;
Waitzberg, Dan Linetzky

Publication type:

Article

Angiokeratomas – When is a few too many?

Published in:

International Journal of STD & AIDS, 2014, v. 25, n. 5, p. 378, doi. 10.1177/0956462413506893

By:

O’Mahony, Colm;
Franks, Andrea;
Llewellyn, Rhiannon

Publication type:

Article