Works matching DE "GLYCOGEN storage disease type II"
Results: 930
Ommaya reservoir placement using ultrasound guidance via anterior fontanelle combined with frameless electromagnetic neuronavigation in patients with mucopolysaccharidosis type 2: Case reports and review of the literature.
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- Child's Nervous System, 2024, v. 40, n. 5, p. 1603, doi. 10.1007/s00381-023-06265-9
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- Article
Bilateral carpal tunnel syndrome in mucopolysaccharidosis type II: a case report.
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- 2022
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- Publication type:
- Case Study
The Virgin and Child with the Infant St. John the Baptist by Sandro Botticelli (1445–1510): does the child have Pompe disease?
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- Child's Nervous System, 2022, v. 38, n. 7, p. 1267, doi. 10.1007/s00381-022-05537-0
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- Article
High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation.
- Published in:
- 2010
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- Publication type:
- Report
Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review.
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- JCEM Case Reports, 2024, v. 2, n. 3, p. 1, doi. 10.1210/jcemcr/luae028
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- Article
Niemann-Pick Disease With Bilateral Adrenal Mass.
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- JCEM Case Reports, 2023, v. 1, n. 6, p. 1, doi. 10.1210/jcemcr/luad152
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- Article
A case of type II fucosidosisdiagnosed with neuroradiological and dysmorphological findings.
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- Current Journal of Neurology, 2023, v. 22, n. 4, p. 265, doi. 10.18502/cjn.v22i4.14534
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- Article
Large-scale proteomics analysis of five brain regions from Parkinson's disease patients with a GBA1 mutation.
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- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00645-x
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- Article
Large-scale proteomics analysis of five brain regions from Parkinson's disease patients with a GBA1 mutation.
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- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00645-x
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- Article
A protective role of ABCA5 in response to elevated sphingomyelin levels in Parkinson's disease.
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- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00632-2
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- Article
Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Psychosis as a symptom of Vitamin B12 deficiency. Report of one case.
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- European Psychiatry, 2021, v. 64, p. S421, doi. 10.1192/j.eurpsy.2021.1126
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- Article
The role of GSK-3 in mood disorders: Preliminary data from an experimental study.
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- European Psychiatry, 2021, v. 64, p. S382, doi. 10.1192/j.eurpsy.2021.1025
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- Article
Evidence of an interaction between FXR1 and GSK3ß polymorphisms on levels of Negative Symptoms of Schizophrenia and their response to antipsychotics.
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- European Psychiatry, 2021, v. 64, n. 1, p. 1, doi. 10.1192/j.eurpsy.2021.26
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- Publication type:
- Article
THE ROLE OF BAFILOMYCIN AS A THERAPEUTIC AGENT IN THE MODULATION OF ENDO-LYSOSOMAL STORE OF RAT HEPATOCYTES.
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- Medical Perspectives / Medičnì Perspektivi, 2022, v. 27, n. 3, p. 22, doi. 10.26641/2307-0404.2022.3.265768
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- Article
КЛІНІЧНИЙ ВИПАДОК ФІЗИЧНОЇ ТЕРАПІЇ ДИТИНИ З МНОЖИННИМ ДЕФІЦИТОМ СУЛЬФАТАЗИ.
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- Medical Perspectives / Medičnì Perspektivi, 2021, v. 26, n. 2, p. 202, doi. 10.26641/2307-0404.2021.2.234735
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- Article
The Antifungal Antibiotic Filipin as a Diagnostic Tool of Cholesterol Alterations in Lysosomal Storage Diseases and Neurodegenerative Disorders.
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- Antibiotics (2079-6382), 2023, v. 12, n. 1, p. 122, doi. 10.3390/antibiotics12010122
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- Article
Transcriptomic and Metabolomic Analysis of a Fusidic Acid-Selected fusA Mutant of Staphylococcus aureus.
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- Antibiotics (2079-6382), 2022, v. 11, n. 8, p. N.PAG, doi. 10.3390/antibiotics11081051
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- Publication type:
- Article
温中消疡汤对非甾体抗炎药相关性胃溃疡的疗效研究.
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- Progress in Modern Biomedicine, 2020, v. 20, n. 21, p. 4076, doi. 10.13241/j.cnki.pmb.2020.21.016
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- Publication type:
- Article
Late-onset Pompe disease in a 54 year-old sportsman with an episode of syncope: a case report.
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- European Review for Medical & Pharmacological Sciences, 2017, v. 21, n. 16, p. 3665
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- Publication type:
- Article
Pompeova bolest -- progresivna multiorganska bolest: dijagnostički i terapijski izazovi.
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- Paediatria Croatica, 2020, v. 64, n. 4, p. 253, doi. 10.13112/pc.404
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- Article
Neurološke manifestacije mukopolisaharidoza.
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- Paediatria Croatica, 2020, v. 64, n. 4, p. 261, doi. 10.13112/pc.405
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- Publication type:
- Article
Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence?
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- 2022
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- Publication type:
- Case Study
Lafora Disease: A Case Report and Evolving Treatment Advancements.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 12, p. 1679, doi. 10.3390/brainsci13121679
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- Article
Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene.
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- 2023
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- Publication type:
- Case Study
Ventriculoperitoneal Shunt Treatment Increases 7 Alpha Hy-Droxy-3-Oxo-4-Cholestenoic Acid and 24-Hydroxycholesterol Concentrations in Idiopathic Normal Pressure Hydrocephalus.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 11, p. 1450, doi. 10.3390/brainsci12111450
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- Article
Neurological and Neuroimaging Features of CYB5R3 -Related Recessive Hereditary Methemoglobinemia Type II.
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- 2022
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- Publication type:
- Case Study
Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).
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- Biomolecules (2218-273X), 2024, v. 14, n. 9, p. 1096, doi. 10.3390/biom14091096
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- Publication type:
- Article
Failure of Autophagy in Pompe Disease.
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- Biomolecules (2218-273X), 2024, v. 14, n. 5, p. 573, doi. 10.3390/biom14050573
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- Article
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
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- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1414, doi. 10.3390/biom13091414
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- Article
A Comprehensive Update on Late-Onset Pompe Disease.
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- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1279, doi. 10.3390/biom13091279
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- Article
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.
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- Biomolecules (2218-273X), 2023, v. 13, n. 8, p. 1227, doi. 10.3390/biom13081227
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- Article
Intravital imaging of muscle damage and response to therapy in a model of Pompe disease.
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- Clinical & Translational Medicine, 2024, v. 14, n. 3, p. 1, doi. 10.1002/ctm2.1561
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- Article
TAVI in Patient Suffering from Niemann–Pick Disease (Acid Sphingomyelinase Deficiency) with Concomitant Situs Inversus and Dextrocardia.
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- 2023
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- Publication type:
- Case Study
Genetics of enzymatic dysfunctions in metabolic disorders and cancer.
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- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1230934
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- Article
Immune transgene-dependent myocarditis in macaques after systemic administration of adeno-associated virus expressing human acid alpha-glucosidase.
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- Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1094279
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- Publication type:
- Article
Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model.
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- Clinical & Experimental Immunology, 2008, v. 152, n. 1, p. 138, doi. 10.1111/j.1365-2249.2008.03602.x
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- Article
Ptosis, Extraocular Motility Disorder, and Myopia as Features of Pompe Disease.
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- Orbit, 2011, v. 30, n. 2, p. 111, doi. 10.3109/01676830.2010.546932
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- Publication type:
- Article
Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.
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- Case Reports in Neurological Medicine, 2014, p. 1, doi. 10.1155/2014/926510
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- Publication type:
- Article
Asymptomatic Young Man with Danon Disease.
- Published in:
- 2014
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- Publication type:
- Case Study
Unraveling the pathogenesis of hyperinsulinemia: Understanding excess insulin secretion.
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- African Journal of Diabetes Medicine, 2023, v. 31, n. 3, p. 1, doi. 10.54931/AJDM-31.3.5
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- Publication type:
- Article
Metabolic Myopathies in the Era of Next-Generation Sequencing.
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- Genes, 2023, v. 14, n. 5, p. 954, doi. 10.3390/genes14050954
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- Publication type:
- Article
Treatment Dilemma in Children with Late-Onset Pompe Disease.
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- Genes, 2023, v. 14, n. 2, p. 362, doi. 10.3390/genes14020362
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- Publication type:
- Article
Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.
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- Genes, 2020, v. 11, n. 2, p. 135, doi. 10.3390/genes11020135
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- Publication type:
- Article
Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa.
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- Journal of Osteoporosis, 2023, p. 1, doi. 10.1155/2023/3254533
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- Publication type:
- Article
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.
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- Insights into Imaging, 2019, v. 10, n. 1, p. 1, doi. 10.1186/s13244-019-0743-5
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- Article
Challenges in the Diagnosis and Management of Gaucher's Disease in a Young Adult Libyan Arab Female.
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- Ibnosina Journal of Medicine & Biomedical Sciences, 2021, v. 13, n. 4, p. 236, doi. 10.4103/ijmbs.ijmbs_74_21
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- Article
Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09534-z
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- Publication type:
- Article
New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges.
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- Expert Review of Clinical Pharmacology, 2019, v. 12, n. 8, p. 757, doi. 10.1080/17512433.2019.1634543
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- Article
Molecular study of Pompe disease in Egyptian infants.
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- Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00203-7
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- Publication type:
- Article