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Thematische Bibliographien / Late-onset Pome disease

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Auswahl der wissenschaftlichen Literatur zum Thema „Late-onset Pome disease“

Autor: Grafiati

Veröffentlicht am 30. Juni 2021

Zuletzt aktualisiert am 29. Juli 2025

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Zeitschriftenartikel zum Thema "Late-onset Pome disease"

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Safina, D. R., L. R. Alimbekova, and A. T. Faskhutdinov. "Late-onset Pompe disease." Clinical pharmacology and therapy 35, no. 3 (2024): 63–66. http://dx.doi.org/10.32756/0869-5490-2024-3-63-66.

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Pompe disease is a rare neuromuscular disorder associated with acid maltase deficiency. The severity of clinical manifestations and age of onset correlate with the type of mutation in the GAA gene and residual activity of lysosomal α-1,4-glucosidase. The infantile form of Pompe disease is characterized by hypertrophic cardiomyopathy, generalized muscle weakness, hypotonia, hepatomegaly and death from respiratory failure within the first year of life. Late-onset Pompe disease may develop at any age and affects skeletal muscle, causing slowly progressive muscle weakness and respiratory impairmen

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Mattosova, S., A. Hlavata, P. Spalek, L. Kotysova, D. Macekova, and J. Chandoga. "Late onset form of Pompe disease." Bratislava Medical Journal 116, no. 08 (2015): 502–5. http://dx.doi.org/10.4149/bll_2015_097.

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3

Schneider, Joseph, Lynn A. Burmeister, Kyle Rudser, Chester B. Whitley, and Jeanine Jarnes Utz. "Hypothyroidism in late-onset Pompe disease." Molecular Genetics and Metabolism Reports 8 (September 2016): 24–27. http://dx.doi.org/10.1016/j.ymgmr.2016.06.002.

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4

Roberts, Mark. "Late-Onset Pompe Disease: A Multisystemic Disorder." Journal of Neuromuscular Diseases 2, s1 (2015): S1. http://dx.doi.org/10.3233/jnd-159001.

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5

Mišurová, Radka, and Věra Malinová. "The late-onset form of Pompe disease." Neurologie pro praxi 22, no. 4 (2021): 325–30. http://dx.doi.org/10.36290/neu.2021.053.

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6

Goker-Alpan, Ozlem, Vellore G. Kasturi, Maninder K. Sohi, et al. "Pregnancy Outcomes in Late Onset Pompe Disease." Life 10, no. 9 (2020): 194. http://dx.doi.org/10.3390/life10090194.

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There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function secondary to the involvement of the respiratory muscles. In a cohort of twenty-five females, the effects of both PD on the course of pregnancy and the effects of pregnancy on PD were investigated. Reproductive history, course of pregnancy, use of Enzyme replacement therapy (ERT), PD symptoms, and outcomes of each pregnancy were obtained through a ques

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Frezza, E., C. Terracciano, M. Giacanelli, E. Rastelli, G. Greco, and R. Massa. "Late-Onset Pompe Disease with Nemaline Bodies." Case Reports in Neurological Medicine 2018 (September 27, 2018): 1–5. http://dx.doi.org/10.1155/2018/4127213.

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Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system. Clinical presentation is highly variable, with infantile and late-onset (LOPED) forms. Although muscle biopsy findings are rather stereotyped, atypical features have been described. A 52-year-old man without a family history of muscle disorders presented with slowly progressing upper and lower limb girdle weakness and hyperCKemia. At needle EMG, a diffuse neurogenic pattern was detected. Mus

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Jones, Harrison, Kelly Crisp, Milisa Batten, et al. "Lingual pathophysiology in late-onset Pompe disease." Molecular Genetics and Metabolism 123, no. 2 (2018): S72. http://dx.doi.org/10.1016/j.ymgme.2017.12.178.

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9

Xirou, S., C. Papadopoulos, V. Nikolakopoulou, et al. "ERT efficacy in late onset Pompe disease." Neuromuscular Disorders 26 (October 2016): S110. http://dx.doi.org/10.1016/j.nmd.2016.06.090.

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Lamartine S.Monteiro, M., and G. Remiche. "Late-onset Pompe disease associated with polyneuropathy." Neuromuscular Disorders 29, no. 12 (2019): 968–72. http://dx.doi.org/10.1016/j.nmd.2019.08.016.

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Dissertationen zum Thema "Late-onset Pome disease"

1

Crossen, Kaylee. "Parent Experiences with Newborn Screening and Medical Management for Late-onset Pompe Disease." University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1623166079821619.

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Remiche, Gauthier. "Genotype-phenotype Correlation in Late-onset Glycogen Storage Disease Type II, Early Diagnosis and Prognostic Determinants." Doctoral thesis, Universite Libre de Bruxelles, 2016. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/227822.

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Glycogen storage disease type II (GSDII) is an autosomal recessive lysosomal storage disorder caused by acid alpha-1,4-glucosidase (GAA) deficiency. This study aimed to provide an in-depth description of a late-onset GSDII (LO-GSDII) cohort (n=36) and assess potential genotype-phenotype correlation. We performed a clinical record-based study, some patients (n= 19) were also followed prospectively. Phenotypes were highly variable. We focused our clinical assessment onrespiratory failure, as it is the most frequent cause of death in LO-GSDII. In addition to standard spirometric measures, in a su

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PALMIERI, ILARIA. "Dissecting the genetic bases of Amyotrophic lateral sclerosis and Late-onset Pompe disease through Next-generation sequencing." Doctoral thesis, Università degli studi di Pavia, 2021. http://hdl.handle.net/11571/1435094.

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Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disorder that affects motor neurons. ALS genetic landscape continues to shift as the number of genes associated with the disease keeps on growing. Moreover, ALS clinical manifestation is complicated by genetic and phenotypic overlapping with Frontotemporal dementia (FTD), Hereditary spastic paraplegia (HSP), Parkinson’s disease (PD) and other neuromuscular diseases. ALS is now considered an oligogenic disease in which the sum of several variants with small effects in different genes may lead to disease onset. Late-onset Pompe disease

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Bücher zum Thema "Late-onset Pome disease"

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van der Ploeg, Ans T., and Pascal Laforêt. Pompe Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0055.

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Pompe disease, also named acid maltase deficiency and glycogen storage disease type II (GSDII), is a rare autosomal recessive disorder caused by the deficiency of the glycogen-degrading lysosomal enzyme acid α‎-glucosidase. The clinical spectrum of this disease is broad, varying from a lethal infantile-onset generalized myopathy including cardiomyopathy, to late-onset slowly progressive muscle weakness mimicking limb-girdle muscular dystrophy. Respiratory insufficiency is a frequent complication and the main cause of death. The prognosis of Pompe disease has changed considerably with the use o

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Brusse, Esther, Pascal Laforêt, and Ans T. van der Ploeg. Danon Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0056.

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Danon disease, like Pompe disease, is a muscle disorder caused by a primary defect in lysosomal proteins. Danon disease (OMIM #300257) is an X-linked dominant disorder, with males being more severely affected than female carriers. In males, mean disease onset is in their early teens and in females in their late twenties. Clinical hallmarks are a severe cardiomyopathy, muscle weakness, and mild mental retardation. Retinal, liver, and pulmonary disease may also occur. Milder, sometimes isolated cardiac phenotypes without mental retardation are also described. Regular cardiac evaluation, even in

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Buchteile zum Thema "Late-onset Pome disease"

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Mori, Mari, Lauren A. Bailey, Januario Estrada, et al. "Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report." In JIMD Reports. Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/8904_2016_563.

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Chien, Yin-Hsiu, Jennifer L. Goldstein, Wuh-Liang Hwu, et al. "Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening." In JIMD Reports. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/8904_2014_366.

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Konferenzberichte zum Thema "Late-onset Pome disease"

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PORTO, BRUNA KELLEN WANDERLEY, CARLA BALEEIRO RODRIGUES SILVA, RODRIGO SILVEIRA VASCONCELOS, LUMA MENDES BRITO, MARLISE SITIMA MENDES SIMÕES FARIA, and SAMUEL KATSUYUKI SHINJO. "LATE-ONSET POMPE DISEASE MIMICKING ADULT POLYMYOSITIS: A CASE REPORT." In 36º Congresso Brasileiro de Reumatologia. Editora Blucher, 2019. http://dx.doi.org/10.5151/sbr2019-150.

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SILVEIRA, RODRIGO ANTUNES, CECILIA DAVILA CHAMBI, DANIELLI APARECIDA SELEGATTO, et al. "POMPE DISEASE LATE ONSET AS A CAUSE OF DIAPHRAGMATIC FAILURE." In 36º Congresso Brasileiro de Reumatologia. Editora Blucher, 2019. http://dx.doi.org/10.5151/sbr2019-208.

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3

Sudhir, Rajini, Richard Russell, and Aziz Masruq. "Late onset Pompe Disease: A rare cause of respiratory failure." In ERS International Congress 2021 abstracts. European Respiratory Society, 2021. http://dx.doi.org/10.1183/13993003.congress-2021.pa953.

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Tent, Michiel. "Long-term effects of avalglucosidase alfa in late-onset Pompe disease." In EAN 2022 Congress, edited by Hans-Peter Hartung. Medicom Medical Publishers, 2022. http://dx.doi.org/10.55788/2a9dffa6.

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Huang, Dennis, and Tahseen Mozaffar. "Misdiagnosis of Late-Onset Pompe Disease: A Case Series (P6-8.009)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000201775.

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Spießhöfer, J., HJ Kabitz, SD Herkenrath, WJ Randerath, P. Young, and M. Boentert. "The nature of respiratory muscle weakness in patients with late-onset-pompe disease." In 61. Kongress der Deutschen Gesellschaft für Pneumologie und Beatmungsmedizin e.V. Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0039-3403083.

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7

Di Marco, Rosario, Antonino Lupica, Paolo Alonge, Vincenzo Di Stefano, Filippo Brighina, and Grazia Crescimanno. "Correlates of dyspnea in late onset Pompe disease (LOPD) patients: a pilot study." In ERS Congress 2024 abstracts. European Respiratory Society, 2024. http://dx.doi.org/10.1183/13993003.congress-2024.pa1444.

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8

Araújo Cunha Guimarães, Maria José, João Winck, Bebiana Conde, Alexandra Mineiro, Margarida Raposo, and Joaquim Moita. "Prevalence of Late-Onset Pompe Disease in Portuguese Patients with Diaphragmatic Paralysis: The DIPPER Study." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa2442.

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Confalonieri, Marco, Michele Vitacca, Andrea Vianello, et al. "Early diagnosis of late onset Pompe disease (LOPD) in patients with respiratory failure (PneumoLoped study preliminary data)." In ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa4258.

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Da Nobrega Cirino Nogueira, Andrea, Liégina Silveira Marinho, Renata Dos Santos Vasconcelos, et al. "Respiratory and Motor Phenotypes and Correlations with Diaphragm Function in Patients with Late-Onset Pompe Disease (LOPD)." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa2432.

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