Lysosomal Storage Disease
Mostrando 1-12 de 134 artigos, teses e dissertações.
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1. Lysosomal acid lipase deficiency in pediatric patients: a scoping review
Abstract Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs among the clinical and laboratory characteristics of LAL-D
Jornal de Pediatria. Publicado em: 2022
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2. Lysosomal storage disease induced by Sida planicaulis (Sin. Sida carpinifolia) (Malvaceae) in sheep in the state of Rio de Janeiro
RESUMO A ingestão de S. planicaulis (Sin. S. carpinifolia) tem sido responsabilizada por doença do armazenamento lisossomal em ovinos. O principal composto tóxico dessa planta, a swainsonina, inibe atividade enzimática da α-manosidase I e II, que redunda no armazenamento de glicoproteínas no interior de lisossomos. Descreveu-se um caso de intoxicação
Arquivo Brasileiro de Medicina Veterinária e Zootecnia. Publicado em: 2022
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3. Physiotherapy for Children with CLN2 Disease
Abstract CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, genetic, paediatric-onset, neurodegenerative lysosomal storage disorder characterised by seizures, ataxia, rapid loss of motor function and language ability, dementia, visual loss and early death. Physiotherapy plays an important role in the management of CLN2 disease, aiming to maintai
J. inborn errors metab. screen.. Publicado em: 04/11/2019
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4. A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation in NEU1
Abstract Sialidosis is a rare lysosomal storage disease. The 2 forms described are as follows: the early-onset form, or type II, presents with dysostosis multiplex, while the late-onset form, or type I, does not involve bone in the literature. We report the case of a 42-year-old woman with type I sialidosis who presents with osteonecrosis of both humeral and
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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5. GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?
Resumo Fundamento: A doença de Fabry (DF) é uma doença de armazenamento lisossômico ligada ao cromossomo X, devido a mutações no gene da alfa galactosidase A (GLA), levando a deficiência enzimática de alfa-galactosidase (α-Gal A) e acúmulo de globotriaosilceramida (Gb3) e globotriaosilsulfingosina (liso-Gb3), causando disfunção de múltiplos ó
Arq. Bras. Cardiol.. Publicado em: 10/07/2019
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6. The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
Abstract The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to accumulation of its substrate globotriaosylceramide. Diagnosis of FD starts with clinical suspici
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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7. Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele
Abstract Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal storage disease. We report on a juvenile onset, now 25-year-old female patient with typical neurologic symptoms, including vertical gaze palsy, of NP-C. The diagnosis was supported by a positive filipin test (“variant biochemical phenotype” of cholesterol ac
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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8. Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
Abstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA r
Genet. Mol. Biol.. Publicado em: 10/06/2019
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9. The Link Between Lysosomal Storage Disorders and More Common Diseases
Abstract In the last decades, it has become more and more evident that lysosomal storage disorders and common neurodegenerative diseases such as Alzheimer and Parkinson diseases have clinical, neuropathological, and genetic features in common, including lysosomal dysfunction and impaired autophagy. Patients with Gaucher and even carriers of Gaucher disease h
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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10. Lysosomes, Lysosomal Storage Diseases, and Inflammation
Abstract Lysosomes were originally described in the early 1950s by de Duve who was also the first to recognize the importance of these organelles in human disease. We know now that lysosomes are involved in numerous biological processes, and abnormalities in lysosomal function may result in a broad range of diseases. This review will briefly discuss the role
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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11. The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders
Abstract Next-generation sequencing (NGS) panels are used widely in clinical diagnostics to identify genetic causes of various monogenic disease groups including neurometabolic disorders and, more recently, lysosomal storage disorders (LSDs). Many new challenges have been introduced through these new technologies, both at the laboratory level and at the bioi
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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12. The Central Nervous System Involvement in Fabry Disease: A Review
Abstract Fabry disease (FD) is an X-linked, lysosomal storage disorder caused by a mutation in the alpha galactosidase (GLA) gene leading to a deficiency in α-galactosidase A enzyme (α-Gal A) activity, which in turn results in accumulation of glycosphingolipids in different cells. The 2 major clinical phenotypes are the classic severe phenotype and the mil
J. inborn errors metab. screen.. Publicado em: 30/05/2019