Works matching DE "SPHINGOLIPIDOSES"

Results: 130

Enzyme Replacement in Gaucher Disease.

Published in:

PLoS Medicine, 2004, v. 1, n. 2, p. 118, doi. 10.1371/journal.pmed.0010021

By:

Beutler, Ernest

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

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

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

LIPOIDOSES.

Published in:

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

By:

F. F. H.

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

Hypohidrosis: an early clue in the diagnosis of Fabry disease.

Published in:

Clinical & Experimental Dermatology, 2015, v. 40, n. 4, p. 444, doi. 10.1111/ced.12501

By:

Jung, S.‐E.;
Kim, Y. C.

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

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

Practical Enzymology of the Sphingolipidoses.

Published in:

1978

By:

Barnard, R. O.

Publication type:

Book Review

A132: Farber Disease Explains Subset of Juvenile Idiopathic Arthritis.

Published in:

Arthritis & Rheumatology, 2014, v. 66, p. S173, doi. 10.1002/art.38553

By:

Schuchman, Edward

Publication type:

Article

Fumonisin B1 (FB1) Induces Lamellar Separation and Alters Sphingolipid Metabolism of In Vitro Cultured Hoof Explants.

Published in:

Toxins, 2016, v. 8, n. 4, p. 89, doi. 10.3390/toxins8040089

By:

Reisinger, Nicole;
Dohnal, Ilse;
Nagl, Veronika;
Schaumberger, Simone;
Schatzmayr, Gerd;
Mayer, Elisabeth

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

Production of Multiple Brain-Like Ganglioside Species Is Dispensable for Fas-Induced Apoptosis of Lymphoid Cells.

Published in:

PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0019974

By:

Popa, Iuliana;
Therville, Nicole;
Carpentier, Stéphane;
Levade, Thierry;
Cuvillier, Olivier;
Portoukalian, Jacques

Publication type:

Article

GM1-generalized gangliosidosis variant with cardiomegaly.

Published in:

1976

By:

Benson, P. F.;
Brown, S. P.;
Babarik, A.;
Mann, T. P.;
Barbarik, A

Publication type:

journal article

I-cell disease--mucolipidosis II.

Published in:

1973

By:

Gordon, Neil;
Gordon, N

Publication type:

journal article

Asthma and obesity in the Middle East region: An overview.

Published in:

Annals of Thoracic Medicine, 2019, v. 14, n. 2, p. 116, doi. 10.4103/atm.ATM_115_18

By:

Hammoudeh, Samer;
Gadelhak, Wessam;
Janahi, Ibrahim

Publication type:

Article

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

Published in:

2017

By:

Walterfang, Mark

Publication type:

journal article

A 6-Year-Old Girl With Thrombocytopenia.

Published in:

Archives of Pathology & Laboratory Medicine, 2003, v. 127, n. 7, p. e305, doi. 10.5858/2003-127-e305-pqcayo

By:

Shayan, Katayoon;
Ye, Charles C.;
Revel-Vilk, Shoshana

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

La relación genotipo y fenotipo de la enfermedad de Gaucher en pacientes mexicanos. Estudio comparativo.

Published in:

Acta Pediatrica de Mexico, 2011, v. 32, n. 1, p. 38

By:

Carbajal-Rodríguez, Luis;
Voirol-García, Aitana;
Mora-Magaña, Ignacio

Publication type:

Article

Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire.

Published in:

Journal of Patient-Reported Outcomes, 2019, v. 3, n. 1, p. N.PAG, doi. 10.1186/s41687-019-0140-3

By:

Harrington, Magdalena;
Hareendran, Asha;
Skalicky, Anne;
Wilson, Hilary;
Clark, Marci;
Mikl, Jaromir

Publication type:

Article

Sphingolipid signalling mediates mitochondrial dysfunctions and reduced chronological lifespan in the yeast model of Niemann- Pick type C1.

Published in:

Molecular Microbiology, 2014, v. 91, n. 3, p. 438, doi. 10.1111/mmi.12470

By:

Vilaça, Rita;
Silva, Elísio;
Nadais, André;
Teixeira, Vítor;
Matmati, Nabil;
Gaifem, Joana;
Hannun, Yusuf A.;
Sá Miranda, Maria Clara;
Costa, Vítor

Publication type:

Article

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 6, p. 548, doi. 10.1007/s10038-006-0396-3

By:

Chengzhe Xu;
Sakai, Norio;
Taniike, Masako;
Inui, Koji;
Ozono, Keiichi

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

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

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

Diagnostic Methods for Gaucher Disease.

Published in:

2015

By:

SALEHPOUR, Shadab

Publication type:

Abstract

Fabry disease in a geriatric population.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 499, doi. 10.1111/cge.12585

By:

Barbey, F.;
Joly, D.;
Noel, E.;
Drouineau, O.;
Krayenbühl, P.‐A.;
Lidove, O.

Publication type:

Article

Intravenous delivery of adeno-associated viral gene therapy in feline GM1 gangliosidosis.

Published in:

2022

By:

Gross, Amanda L;
Gray-Edwards, Heather L;
Bebout, Cassie N;
Ta, Nathan L;
Nielsen, Kayly;
Brunson, Brandon L;
Mercado, Kalajan R Lopez;
Osterhoudt, Devin E;
Batista, Ana Rita;
Maitland, Stacy;
Seyfried, Thomas N;
Sena-Esteves, Miguel;
Martin, Douglas R;
Lopez Mercado, Kalajan R

Publication type:

journal 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

Natural History of Adult Patients with GM2 Gangliosidosis.

Published in:

2020

By:

Masingue, Marion;
Dufour, Louis;
Lenglet, Timothée;
Saleille, Lisa;
Goizet, Cyril;
Ayrignac, Xavier;
Ory‐Magne, Fabienne;
Barth, Magali;
Lamari, Foudil;
Mandia, Daniele;
Caillaud, Catherine;
Nadjar, Yann;
Ory-Magne, Fabienne

Publication type:

journal article

Uptake of long chain fatty acids is regulated by dynamic interaction of FAT/CD36 with cholesterol/sphingolipid enriched microdomains (lipid rafts).

Published in:

BMC Cell Biology, 2008, v. 9, p. 1, doi. 10.1186/1471-2121-9-45

By:

Ehehalt, Robert;
Sparla, Richard;
Kulaksiz, Hasan;
Herrmann, Thomas;
Füllekrug, Joachim;
Stremmel, Wolfgang

Publication type:

Article

DRG-targeted helper-dependent adenoviruses mediate selective gene delivery for therapeutic rescue of sensory neuronopathies in mice.

Published in:

2009

By:

Terashima, Tomoya;
Oka, Kazuhiro;
Kritz, Angelika B.;
Kojima, Hideto;
Baker, Andrew H.;
Chan, Lawrence

Publication type:

journal article

Maternal disturbance in activated sphingolipid metabolism causes pregnancy loss in mice.

Published in:

2007

By:

Mizugishi, Kiyomi;
Cuiling Li;
Olivera, Ana;
Bielawski, Jacek;
Bielawska, Alicja;
Chu-Xia Deng;
Proia, Richard L.;
Li, Cuiling;
Deng, Chu-Xia

Publication type:

journal 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

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

Extraosseous Gaucher cell deposition without adjacent bone involvement.

Published in:

Skeletal Radiology, 2014, v. 43, n. 10, p. 1495, doi. 10.1007/s00256-014-1927-1

By:

Meyer, Brendan;
Mills, Anne;
Gaskin, Cree

Publication type:

Article

Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 400, doi. 10.1007/s004390000380

By:

Tayebi, Nahid;
Park, Joseph;
Madike, Victor;
Sidransky, Ellen

Publication type:

Article

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 12, doi. 10.1007/s004390050003

By:

Drousiotou, Anthi;
Stylianidou, Goula;
Anastasiadou, Violetta;
Christopoulos, George;
Mavrikiou, Eleni;
Georgiou, Theodoros;
Kalakoutis, Gabriel;
Oladimeji, Adebayo;
Hara, Yoji;
Suzuki, Kunihiko;
Furihata, Kenichi;
Ueno, Ichiro;
Ioannou, Panayiotis A.;
Fensom, Anthony H.

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

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 927, doi. 10.1093/hmg/10.9.927

By:

Hulková, H.;
Cervenková, M.;
Ledvinová, J.;
Tochácková, M.;
Hrebícek, M.;
Poupetová, H.;
Befekadu, A.;
Berná, L.;
Paton, B.C.;
Harzer, K.;
Böör, A.;
Šmíd, F.;
Elleder, M.

Publication type:

Article

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 927, doi. 10.1093/hmg/10.9.927

By:

Hulková, H.;
Cervenková, M.;
Ledvinová, J.;
Tochácková, M.;
Hrebícek, M.;
Poupetová, H.;
Befekadu, A.;
Berná, L.;
Paton, B.C.;
Harzer, K.;
Böör, A.;
míd, F.;
Elleder, M.

Publication type:

Article

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

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

Genetic investigation of Leukodystrophy in Iran.

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 11

By:

HOUSHMAND, Massoud

Publication type:

Article

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Published in:

2016

By:

Alfadhel, Majid;
Benmeakel, Mohammed;
Arif Hossain, Mohammad;
Al Mutairi, Fuad;
Al Othaim, Ali;
Alfares, Ahmed A.;
Al Balwi, Mohammed;
Alzaben, Abdullah;
Eyaid, Wafaa;
Hossain, Mohammad Arif

Publication type:

journal article

Quality of life in patients with Fabry disease: a systematic review of the literature.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0296-8

By:

Arends, Maarten;
Hollak, Carla E. M.;
Biegstraaten, Marieke

Publication type:

Article