Works matching DE "SPHINGOLIPIDOSES"

Results: 131

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

Practical Enzymology of the Sphingolipidoses.

Published in:

1978

By:

Barnard, R. O.

Publication type:

Book Review

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

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

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

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

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

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

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

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

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

Ultra-performance liquid chromatography/tandem mass spectrometry for determination of sulfatides in dried blood spots from patients with metachromatic leukodystrophy.

Published in:

Rapid Communications in Mass Spectrometry: RCM, 2014, v. 28, n. 6, p. 587, doi. 10.1002/rcm.6823

By:

Han, Minje;
Jun, Sun‐Hee;
Song, Sang Hoon;
Park, Hyung‐Doo;
Park, Kyoung Un;
Song, Junghan

Publication type:

Article

Where leukodystrophy and storage disorder meet: A rare cause of neurodegeneration.

Published in:

2023

By:

Medha, Apurva;
Pandey, Abhishek;
Saini, Arushi;
Bhatia, Vikas

Publication type:

Case Study

Neurodegeneration with Progressive Dystonia: Juvenile-Onset Tay--Sachs Disease.

Published in:

2022

By:

Kaur, Jasmine;
Bhanudeep, Singanamalla;
Suresh, Ramprabhu G.;
Saini, Arushi G.;
Bhatia, Vikas

Publication type:

Letter to the Editor

Cysts in White Matter: A Novel Neuroimaging Finding in Infantile GM1 Gangliosidosis.

Published in:

2018

By:

Kamate, Mahesh

Publication type:

Case Study

Progressive intellectual and neurological disorders: can surveillance lead to improved outcomes?

Published in:

2017

By:

Walterfang, Mark

Publication type:

journal article

Angiokeratoma with lysosomal dilatation in keratinocytes in a dog: a case report.

Published in:

2014

By:

LIM, H. K.;
KIM, H. J.;
LEE, H. R.;
HAN, S.;
DO, S. H.

Publication type:

Case Study

Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective—Case Report and Literature Review.

Published in:

Children, 2023, v. 10, n. 3, p. 595, doi. 10.3390/children10030595

By:

Schittkowski, Michael P.;
Naxer, Sabine;
Elabbasy, Mohamed;
Herholz, Leonie;
Breitling, Vivian;
Finglas, Alan;
Gärtner, Jutta;
Schlotawa, Lars

Publication type:

Article

LIPOIDOSES.

Published in:

British Journal of Dermatology, 1955, v. 67, n. 12, p. 457

By:

F. F. H.

Publication type:

Article

Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis.

Published in:

Indian Journal of Endocrinology & Metabolism, 2011, v. 15, n. 3, p. 224, doi. 10.4103/2230-8210.83415

By:

Jain, Vishakha V.;
Yelwatkar, Samir

Publication type:

Article

ApoCIII-Enriched LDL in Type 2 Diabetes Displays Altered Lipid Composition, Increased Susceptibility for Sphingomyelinase, and Increased Binding to Biglycan.

Published in:

Diabetes, 2009, v. 58, n. 9, p. 2018, doi. 10.2337/db09-0206

By:

Hiukka, Anne;
Ståhlman, Marcus;
Pettersson, Camilla;
Levin, Malin;
Adiels, Martin;
Teneberg, Susanne;
Leinonen, Eeva S.;
Mattsson Hultén, Lillemor;
Wiklund, Olov;
Orešič, Matej;
Olofsson, Sven-Olof;
Taskinen, Marja-Riitta;
Ekroos, Kim;
Borén, Jan

Publication type:

Article

The protein kinase Cmk2 negatively regulates the calcium/calcineurin signalling pathway and expression of calcium pump genes PMR1 and PMC1 in budding yeast.

Published in:

Cell Communication & Signaling, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12964-019-0320-z

By:

Xu, Huihui;
Fang, Tianshu;
Yan, Hongbo;
Jiang, Linghuo

Publication type:

Article

IgM anti-GM1 antibody titers in patients with monomelic amyotrophy.

Published in:

2006

By:

Khandelwal, Dinesh;
Bhatia, Manvir;
Vivekanandan, S.;
Singh, Sumit;
Shukla, Garima;
Goyal, Vinay;
Behari, Madhuri

Publication type:

journal article

Intraparenchymal injections of acid sphingomyelinase results in regional correction of lysosomal storage pathology in the Niemann-Pick A mouse.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 30
Publication type:: Article

The Early Treatment of Anderson-Fabry Disease in Children.

Published in:

Current Medical Literature: Lysosomal Storage Disease, 2006, v. 6, n. 3, p. 73

By:

Ramaswami, Uma

Publication type:

Article

CLINICAL HETEROGENEITY OF METACHROMATIC LEUKODYSTROPHY.

Published in:

Current Medical Literature: Lysosomal Storage Disease, 2005, v. 4, n. 4, p. 77

By:

Gieselmann, Volkman

Publication type:

Article

Severe pathologic compression of three consecutive vertebrae in Gaucher's disease: a case report and review of the literature.

Published in:

European Spine Journal, 2003, v. 12, n. 1, p. 97, doi. 10.1007/s00586-002-0399-5

By:

Wiesner, L.;
Niggemeyer, O.;
Kothe, R.;
Meiss, A. L.

Publication type:

Article

An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis.

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 12, doi. 10.4274/jpr.87609

By:

Er, Esra;
Canda, Ebru;
Yazıcı, Havva;
Eraslan, Cenk;
Sözmen, Eser;
Uçar, Sema Kalkan;
Çoker, Mahmut

Publication type:

Article

Altered pupillary light responses are associated with the severity of autonomic symptoms in patients with Fabry disease.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-87589-x

By:

Bitirgen, Gulfidan;
Turkmen, Kultigin;
Zengin, Nazmi;
Malik, Rayaz A.

Publication type:

Article

Lipid Metabolism as a Therapeutic Target.

Published in:

Biotechnology Research International, 2012, p. 1, doi. 10.1155/2012/158139

By:

Smith, Terry K.;
Reynolds, Todd B.;
Denny, Paul W.

Publication type:

Article