Works matching DE "GLYCOGEN storage disease type II"
Results: 934
Effects of immune modulation therapy in the first Croatian infant diagnosed with Pompe disease: a 3-year follow-up study.
- Published in:
- 2014
- By:
- Publication type:
- Report
Right ventricular function in late-onset Pompe disease.
- Published in:
- Journal of Clinical Monitoring & Computing, 2014, v. 28, n. 4, p. 419, doi. 10.1007/s10877-014-9551-0
- By:
- Publication type:
- Article
A New Mutation of Pompe Disease in a 2-Month-Old Infant.
- Published in:
- Case Reports in Clinical Practice, 2023, v. 8, n. 5, p. 189
- By:
- Publication type:
- Article
Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study.
- Published in:
- PeerJ, 2021, p. 1, doi. 10.7717/peerj.10928
- By:
- Publication type:
- Article
Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase.
- Published in:
- Journal of Enzyme Inhibition & Medicinal Chemistry, 2021, v. 36, n. 1, p. 2068, doi. 10.1080/14756366.2021.1975694
- By:
- Publication type:
- Article
Cardiac comorbidities in McArdle disease: case report and systematic review.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 10, p. 4757, doi. 10.1007/s10072-024-07600-x
- By:
- Publication type:
- Article
Screening for Fabry disease in a series of Parkinson's disease patients and literature review.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 4, p. 1235, doi. 10.1007/s10072-022-06554-2
- By:
- Publication type:
- Article
Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?
- Published in:
- Neurological Sciences, 2023, v. 44, n. 1, p. 319, doi. 10.1007/s10072-022-06388-y
- By:
- Publication type:
- Article
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 11, p. 6517, doi. 10.1007/s10072-022-06270-x
- By:
- Publication type:
- Article
A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 7, p. 4463, doi. 10.1007/s10072-022-05893-4
- By:
- Publication type:
- Article
Whole-exome sequencing analysis to identify novel potential pathogenetic NPC1 mutations in two Chinese families with Niemann-Pick disease type C.
- Published in:
- 2022
- By:
- Publication type:
- journal article
New disease modifying therapies for two genetic childhood-onset neurometabolic disorders (metachromatic leucodystrophy and adrenoleucodystrophy).
- Published in:
- 2021
- By:
- Publication type:
- Editorial
Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD).
- Published in:
- 2021
- By:
- Publication type:
- journal article
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 4, p. 1523, doi. 10.1007/s10072-020-04896-3
- By:
- Publication type:
- Article
Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 8, p. 2175, doi. 10.1007/s10072-020-04316-6
- By:
- Publication type:
- Article
Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Maternal germline mosaicism in Fabry disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Intracranial arterial dolichoectasia and superficial siderosis associated to neurofibromatosis type 1: report of one case.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Long-term whole-body vibration training in two late-onset Pompe disease patients.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 4, p. 599, doi. 10.1007/s10072-014-2000-5
- By:
- Publication type:
- Article
Metabolic Storage Disorders at a Tertiary Care Hospital, Pakistan.
- Published in:
- Journal of Liaquat University of Medical & Health Sciences, 2023, v. 22, n. 4, p. 277, doi. 10.22442/jlumhs.2023.01016
- By:
- Publication type:
- Article
Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence?
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Analyzing immune cell infiltrates in skeletal muscle of infantile-onset Pompe disease using bioinformatics and machine learning.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-78634-6
- By:
- Publication type:
- Article
An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-72259-5
- By:
- Publication type:
- Article
Author Correction: Degeneration of muscle spindles in a murine model of Pompe disease.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-63491-0
- By:
- Publication type:
- Article
Lafora Disease: A Case Report and Evolving Treatment Advancements.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 12, p. 1679, doi. 10.3390/brainsci13121679
- By:
- Publication type:
- Article
Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene.
- Published in:
- 2023
- By:
- 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.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 11, p. 1450, doi. 10.3390/brainsci12111450
- By:
- Publication type:
- Article
Neurological and Neuroimaging Features of CYB5R3 -Related Recessive Hereditary Methemoglobinemia Type II.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 9, p. 1096, doi. 10.3390/biom14091096
- By:
- Publication type:
- Article
Failure of Autophagy in Pompe Disease.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 5, p. 573, doi. 10.3390/biom14050573
- By:
- Publication type:
- Article
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1414, doi. 10.3390/biom13091414
- By:
- Publication type:
- Article
A Comprehensive Update on Late-Onset Pompe Disease.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1279, doi. 10.3390/biom13091279
- By:
- Publication type:
- Article
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 8, p. 1227, doi. 10.3390/biom13081227
- By:
- Publication type:
- Article
The Release of a Soluble Glycosylated Protein from Glycogen by Recombinant Lysosomal α-Glucosidase (rhGAA) In Vitro and Its Presence in Serum In Vivo.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 12, p. 1613, doi. 10.3390/biom10121613
- By:
- Publication type:
- Article
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 9, p. 1339, doi. 10.3390/biom10091339
- By:
- Publication type:
- Article
Prenatal imaging patterns of different forms of infantile myofibromatosis.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, n. 5, p. 782, doi. 10.1002/uog.21964
- By:
- Publication type:
- Article
P05.03: Ultrasound prenatal diagnosis of Pompe disease: is it possible?
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 181, doi. 10.1002/uog.9660
- By:
- Publication type:
- Article
Alleviated bleeding phenotypes in a child with severe haemophilia A and thalassemia disease.
- Published in:
- Haemophilia, 2024, v. 30, n. 4, p. 1092, doi. 10.1111/hae.15041
- By:
- Publication type:
- Article
Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1477291
- By:
- Publication type:
- Article
Expansion of immature, nucleated red blood cells by transient low‐dose methotrexate immune tolerance induction in mice.
- Published in:
- Clinical & Experimental Immunology, 2021, v. 203, n. 3, p. 409, doi. 10.1111/cei.13552
- By:
- Publication type:
- Article
Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.
- Published in:
- Nephrology, 2023, v. 28, n. 12, p. 649, doi. 10.1111/nep.14232
- By:
- Publication type:
- Article
Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.
- Published in:
- Clinical & Experimental Reproductive Medicine, 2019, v. 46, n. 4, p. 206
- By:
- Publication type:
- Article
Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease).
- Published in:
- Animals (2076-2615), 2023, v. 13, n. 8, p. 1336, doi. 10.3390/ani13081336
- By:
- Publication type:
- Article
A Late Juvenile Onset Type Metachromatic Leukodystrophy Case Presenting With Continuous Pseudobulbar Crying.
- Published in:
- Cumhuriyet Medical Journal, 2022, v. 44, n. 2, p. 228, doi. 10.7197/cmj.1088934
- By:
- Publication type:
- Article
NICE Approaches to Expert Opinion Evidence in Highly Specialised Technologies: Time to Change? Evidence Assessment Group Perspective.
- Published in:
- PharmacoEconomics, 2024, v. 42, n. 9, p. 913, doi. 10.1007/s40273-024-01405-8
- By:
- Publication type:
- Article
A Systematic Review of the Health Economics of Pompe Disease.
- Published in:
- PharmacoEconomics, 2019, v. 37, n. 12, p. 479, doi. 10.1007/s41669-019-0142-3
- By:
- Publication type:
- Article
Asymptomatic Young Man with Danon Disease.
- Published in:
- 2014
- By:
- Publication type:
- Case Study