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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:
- 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
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- Publication type:
- Article
Effects of inhibitors of key enzymes of sphingolipid metabolism on insulin-induced glucose uptake and glycogen synthesis in liver cells of old rats.
- Published in:
- Biochemistry (00062979), 2015, v. 80, n. 1, p. 104, doi. 10.1134/S0006297915010125
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- 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
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- Publication type:
- Article
Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale.
- Published in:
- Journal of Patient-Reported Outcomes, 2018, v. 2, n. 1, p. N.PAG, doi. 10.1186/s41687-018-0041-x
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- Publication type:
- Article
Progressive cerebellar ataxia in juvenile GM2-gangliosidosis type Sandhoff.
- Published in:
- 1998
- By:
- Publication type:
- Case Study
Fabry disease in a geriatric population.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 5, p. 499, doi. 10.1111/cge.12585
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- Publication type:
- Article
Enzyme replacement therapy with agalsidase β improves cardiac involvement in Fabry's disease.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 2, p. 158, doi. 10.1111/j.1399-0004.2004.00284.x
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- Publication type:
- Article
Sfingolipit depo hastalıklarında enzim inhibitörlerinin tedavide kullanımları.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2010, v. 53, n. 3, p. 236
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- Publication type:
- Article
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
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- 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
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- 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
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- Publication type:
- Article
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 36, doi. 10.1186/1750-1172-7-36
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- Publication type:
- Article
Intravenous delivery of adeno-associated viral gene therapy in feline GM1 gangliosidosis.
- Published in:
- 2022
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- Publication type:
- journal article
Reproducibility of manual and semi-automated late enhancement quantification in patients with Fabry disease.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Practical Enzymology of the Sphingolipidoses.
- Published in:
- 1978
- By:
- Publication type:
- Book Review
The UDP-glucose ceramide glycosyltransferase (UGCG) and the link to multidrug resistance protein 1 (MDR1).
- Published in:
- 2018
- By:
- Publication type:
- journal article
DRG-targeted helper-dependent adenoviruses mediate selective gene delivery for therapeutic rescue of sensory neuronopathies in mice.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Maternal disturbance in activated sphingolipid metabolism causes pregnancy loss in mice.
- Published in:
- 2007
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- Publication type:
- journal 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
Eyeing the spots and the spot in the eye: GM1 gangliosidosis.
- Published in:
- Journal of Pediatric Neurosciences, 2022, v. 17, n. 1, p. 85, doi. 10.4103/jpn.JPN_173_20
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- Publication type:
- Article
Electroneurography and advanced neuroimaging profile in pediatric-onset metachromatic leukodystrophy.
- Published in:
- Journal of Pediatric Neurosciences, 2019, v. 14, n. 2, p. 70, doi. 10.4103/jpn.JPN_155_18
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- Publication type:
- Article
Extensive Mongolian spots in a hypotonic infant with GM1 gangliosidosis.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 3, p. 346, doi. 10.4103/JPN.JPN_180_17
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- Publication type:
- Article
Neuro-ichthyotic syndromes: A case series.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 34, doi. 10.4103/JPN.JPN_54_17
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- Publication type:
- Article
Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.
- Published in:
- Journal of Pediatric Neurosciences, 2017, v. 12, n. 1, p. 78, doi. 10.4103/1817-1745.205623
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- Publication type:
- Article
Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
GM1 gangliosidosis: Clinical and radiological clue to diagnosis.
- Published in:
- Journal of Pediatric Neurosciences, 2012, v. 7, n. 3, p. 179, doi. 10.4103/1817-1745.106472
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- Publication type:
- Article
Farber disease: A clinical diagnosis.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Neuroradiological findings in GM2 gangliosidosis variant B1.
- Published in:
- Journal of Pediatric Neurosciences, 2011, v. 6, n. 2, p. 110, doi. 10.4103/1817-1745.92824
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- Publication type:
- Article
Computational identification and experimental characterization of substrate binding determinants of nucleotide pyrophosphatase/ phosphodiesterase 7.
- Published in:
- BMC Biochemistry, 2011, v. 12, n. 1, p. 65, doi. 10.1186/1471-2091-12-65
- Publication type:
- Article
Mesenteric mass in a young girl – an unusual site for Gaucher's disease.
- Published in:
- Pediatric Radiology, 2002, v. 32, n. 9, p. 674, doi. 10.1007/s00247-002-0761-0
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- 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
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- 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
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- Publication type:
- Article
Niemann–Pick disease Type C: From molecule to clinic.
- Published in:
- Clinical & Experimental Pharmacology & Physiology, 2010, v. 37, n. 1, p. 132, doi. 10.1111/j.1440-1681.2009.05235.x
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- Publication type:
- Article
Anderson-Fabry Disease in Females.
- Published in:
- BANTAO Journal, 2014, v. 12, n. 1, p. 20
- By:
- 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
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- 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
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- 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:
- Publication type:
- Article
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Progressive intellectual and neurological disorders: can surveillance lead to improved outcomes?
- Published in:
- 2017
- By:
- Publication type:
- journal 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:
- 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:
- 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:
- 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:
- Publication type:
- Article