Works matching DE "NIEMANN-Pick diseases"
Results: 670
REGULATION OF NEURONAL GANGLIOSIDE DEGRADATION BY GENETIC AND POSTTRANSLATIONAL MODIFIERS.
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- Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2023, v. 48, p. 56
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- Article
Enfermedad de Niemann-Pick tipo B. Estudio de tres casos y revisión de la literatura.
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- Acta Pediatrica de Mexico, 2014, v. 35, n. 1, p. 30
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- Publication type:
- Article
Anomalías oculomotoras en los niños con Niemann-Pick C.
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- Revista Mexicana de Pediatria, 2014, v. 81, n. 3, p. 108
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- Article
Alterations in the content and physiological role of sphingomyelin in plasma membranes of cells cultured in three-dimensional matrix.
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- Molecular & Cellular Biochemistry, 2010, v. 340, n. 1/2, p. 215, doi. 10.1007/s11010-010-0420-y
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- Article
High-Pressure Freezing And Freeze-Substitution Shows Enhanced Details In Niemann-Pick Type C Disease Cells.
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- 2012
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- Abstract
Niemann-Pick disease resulting in spontaneous splenic rupture in an adult: Report of a case.
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- Surgery Today, 2008, v. 38, n. 5, p. 473, doi. 10.1007/s00595-007-3641-2
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- Publication type:
- Article
Metastatic hepatocellular carcinoma in a patient with niemann-pick disease, type C.
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- 2003
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- Publication type:
- journal article
Acid sphingomyelinase is a key regulator of cytotoxic granule secretion by primary T lymphocytes.
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- Nature Immunology, 2009, v. 10, n. 7, p. 761, doi. 10.1038/ni.1757
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- Publication type:
- Article
ASMase: the tailor of cytotoxic T cell granule exocytosis.
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- Nature Immunology, 2009, v. 10, n. 7, p. 683, doi. 10.1038/ni0709-683
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- Publication type:
- Article
SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
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- Hereditas, 2023, v. 160, n. 1, p. 1, doi. 10.1186/s41065-023-00272-1
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- Publication type:
- Article
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
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- Hereditas, 2022, v. 159, n. 1, p. 1, doi. 10.1186/s41065-022-00224-1
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- Publication type:
- Article
Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 961, doi. 10.1002/mdc3.13085
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- Publication type:
- Article
A Family with Late‐Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 3, p. 332, doi. 10.1002/mdc3.12920
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- Publication type:
- Article
A Case of Niemann-Pick type B Presented with Interstitial Lung Disease.
- Published in:
- 2021
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- Publication type:
- Case Study
Niemann-Pick disease type C: mutations of NPC1 gene and the course of disease.
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- Paediatria Croatica, 2014, v. 58, n. 4, p. 255, doi. 10.13112/PC.2014.45
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- Publication type:
- Article
Pediatric liver transplantation for neonatal‐onset Niemann‐Pick disease type C: Japanese multicenter experience.
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- Pediatric Transplantation, 2019, v. 23, n. 5, p. N.PAG, doi. 10.1111/petr.13462
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- Publication type:
- Article
ر نکروپ سی از کبد A گزارش یک مور د بیمار ی نیمن پیک تیپ دختر چها ر ماه ه با شکایت تب و پا ن سیتوپن ی.
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- Iranian South Medical Journal, 2021, v. 24, n. 2, p. 126
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- Publication type:
- Article
The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis.
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- Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.867413
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- Publication type:
- Article
Case Report: Be Aware of "New" Features of Niemann–Pick Disease: Insights From Two Pediatric Cases.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.845246
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- Publication type:
- Article
Do local anesthetics interact preferentially with membrane lipid rafts? Comparative interactivities with raft-like membranes.
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- Journal of Anesthesia, 2010, v. 24, n. 4, p. 639, doi. 10.1007/s00540-010-0943-0
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- Publication type:
- Article
Systemic lupus erythematosus occurring in a patient with Niemann–Pick type B disease.
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- 2015
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- Publication type:
- Case Study
Novel Mutation in the Feline NPC2 Gene in Cats with Niemann–Pick Disease.
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- Animals (2076-2615), 2023, v. 13, n. 11, p. 1744, doi. 10.3390/ani13111744
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- Publication type:
- Article
Olipudase Alfa: First Approval.
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- Drugs, 2022, v. 82, n. 8, p. 941, doi. 10.1007/s40265-022-01727-x
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- Publication type:
- Article
SETD2 deficiency accelerates sphingomyelin accumulation and promotes the development of renal cancer.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-43378-w
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- Publication type:
- Article
Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician.
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- International Journal of Pediatrics, 2015, v. 2015, p. 1, doi. 10.1155/2015/816593
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- Publication type:
- Article
Proteínas de Niemann-Pick C1L1 como objetivos terapéuticos moleculares para el tratamiento de cálculos biliares de colesterol.
- Published in:
- Revista Biomedica, 2013, v. 24, n. 2, p. 65
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- Publication type:
- Article
Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
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- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0252825
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- Publication type:
- Article
Image-based screen capturing misfolding status of Niemann-Pick type C1 identifies potential candidates for chaperone drugs.
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- PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0243746
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- Publication type:
- Article
A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS.
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- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238624
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- Publication type:
- Article
Maladie de Verneuil: un diagnostic à ne pas méconnaitre devant une lésion tumorale vulvaire et périnéale.
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- Pan African Medical Journal, 2018, v. 31, p. 1, doi. 10.11604/pamj.2018.31.76.17107
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- Publication type:
- Article
A Case with Niemann-Pick Disease and Concomitant Kartagener's Syndrome.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2013, v. 35, n. 3, p. 174, doi. 10.5152/etd.2013.29
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- Publication type:
- Article
Differently increased volumes of multiple brain areas in Npc1 mutant mice following various drug treatments.
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- Frontiers in Neuroanatomy, 2024, p. 1, doi. 10.3389/fnana.2024.1430790
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- Publication type:
- Article
Adult Niemann-Pick disease type B with myositis ossificans: a case report.
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- Acta Reumatológica Portuguesa, 2016, v. 41, n. 3, p. 260
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- Publication type:
- Article
ARTRALGIAS, DORES ÓSSEAS, ANTICORPOS ANTI-NUCLEARES POSITIVOS E TROMBOCITOPENIA... DIAGNÓSTICO: DOENÇA DE NIEMANN-PICK.
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- 2009
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- Publication type:
- Case Study
Acid sphingomyelinase deficiency in France: a retrospective survival study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03234-6
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- Publication type:
- Article
Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC).
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03233-7
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- Publication type:
- Article
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03241-7
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- Publication type:
- Article
A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03174-1
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- Publication type:
- Article
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02983-0
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- Publication type:
- Article
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02804-4
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- Publication type:
- Article
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02797-0
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- Publication type:
- Article
Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment.
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- Biology of the Cell (Wiley-Blackwell), 2009, v. 101, n. 3, p. 141, doi. 10.1042/BC20070171
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- Publication type:
- Article
Acid sphingomyelinase deficiency with homozygous p.Arg610del genotype in an elderly patient: a rare case report.
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- Brazilian Journal of Pulmonology / Jornal Brasileiro de Pneumologia, 2024, v. 50, n. 5, p. 1, doi. 10.36416/1806-3756/e20240192
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- Publication type:
- Article
Niemann-Pick disease type B: HRCT assessment of pulmonary involvement.
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- Brazilian Journal of Pulmonology / Jornal Brasileiro de Pneumologia, 2017, v. 43, n. 6, p. 451, doi. 10.1590/S1806-37562017000000062
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- Publication type:
- Article
Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease.
- Published in:
- FASEB Journal, 2008, v. 22, n. 10, p. 3617, doi. 10.1096/fj.07-102715
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- Publication type:
- Article
The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.
- Published in:
- FASEB Journal, 2008, v. 22, n. 10, p. 3419, doi. 10.1096/fj.08-108043
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- Publication type:
- Article
Investigating the molecular mechanism of toxicity following administration of recombinant human acid sphingomyelinase.
- Published in:
- FASEB Journal, 2007, v. 21, n. 6, p. A810, doi. 10.1096/fasebj.21.6.a810-d
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- Publication type:
- Article
Niemann-Pick Type C2 (NPC2) Protein Regulates Adipocyte Metabolism.
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- FASEB Journal, 2007, v. 21, n. 5, p. A664, doi. 10.1096/fasebj.21.5.a664
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- Publication type:
- Article
Inflammation in the Niemann-Pick type-C brain.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A234
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- Publication type:
- Article
Immune dysfunction in Niemann-Pick disease type C.
- Published in:
- Journal of Neurochemistry, 2016, v. 136, p. 74, doi. 10.1111/jnc.13138
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- Publication type:
- Article