Results 61 to 70 of about 5,969 (170)

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

Advanced NanoBiomed Research, Volume 6, Issue 2, February 2026.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov, Murugan Ramalingam, Hongkai Wu, Toshinori Fujie, Yukinari Nakamura, Takeshi Hori, Yuji Nashimoto, Xuetao Shi, Hirokazu Kaji   +8 more
wiley   +1 more source

Skeletal muscle metabolism during prolonged exercise in Pompe disease

Endocrine Connections, 2017
Objective: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown.
Nicolai Preisler, Pascal Laforêt, Karen Lindhardt Madsen, Edith Husu, Christoffer Rasmus Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing   +8 more
doaj   +1 more source

Six‐Year Trends in Real‐World Data Use for Post‐Marketing Surveillance of New Medical Products in Japan

Clinical and Translational Science, Volume 19, Issue 2, February 2026.
ABSTRACT The Ministerial Ordinance on Good Post‐Marketing Study Practice for Drugs was amended by the Ministry of Health, Labour and Welfare (MHLW) in 2018 to clearly define post‐marketing database studies (DBS) as a measure of pharmacovigilance activities for approved medical products in Japan.
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

Pompe Disease [PDF]

Neurologie pro praxi, 2018
Alexander Peter Murphy, Volker Straub
  +4 more sources

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia

European Journal of Neurology, Volume 33, Issue 2, February 2026.
ABSTRACT Background Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. Objective This guideline aims to provide updated, evidence‐based recommendations on investigating persons older than 18 years.
T. Kyriakides, K. Aleksovska, C. Angelini, Z. Argov, K. G. Claeys, M. de Visser, M. FIlosto, I. Jovanovic, A. Kostera‐Pruszczyk, M. J. Molnar, S. Sacconi, J. Schaefer, G. Siciliano, J. J. Vilchez, B. Schoser, A. Toscano   +15 more
wiley   +1 more source

Sensory neuropathy in patients with Pompe disease: a case series in Iran

BMC Musculoskeletal Disorders
Background Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of
Marzieh Babaee, Mahdieh Rahmati, Shima Dehdahsi, Hanns Lochmuller, Mohamad Hassan Bahrami, Vahide Zeinali, S. Mansoor Rayegani   +6 more
doaj   +1 more source

Infantile Pompe Disease: Atypical Variant

Journal of Neuromuscular Diseases, 2015
Pompe disease (glycogen storage disease type II, glycogenosis II, or acid maltase defi ciency) is a lysosomal storage disorder in which an alpha-glucosidase (GAA) defi ciency causes intralysosomal accumulation of glycogen in all tissues, notably skeletal muscles. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in
Thaís, Rodrigues, Carlo D, Marrone
openaire   +3 more sources

Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features

Folia Neuropathologica, 2016
Introduction: The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care.
Claire Dolfus, Jean-Philippe Simon, Gérard Landemore, François Leroy, Françoise Chapon   +4 more
doaj   +1 more source

Clinical and Genetic Aspects of Pompe Disease: A Review of Current Knowledge

Quality in Sport
: Introduction:  Pompe disease is classified as a metabolic myopathy and is a glycogen storage disorder inherited in an autosomal recessive manner due to a mutation in the gene encoding the enzyme α-glucosidase.
Agata Konopka, Milena Sitkiewicz, Zuzanna Szczepaniak, Natalia Wdowiak, Kinga Adamska   +4 more
doaj   +1 more source

Type 1 Diabetes: An In-Depth Review of Pathogenesis with a Focus on the Role of Physical Activity and Dietary Interventions

Quality in Sport
Introduction:  Pompe disease is classified as a metabolic myopathy and is a glycogen storage disorder inherited in an autosomal recessive manner due to a mutation in the gene encoding the enzyme α-glucosidase.
Agata Konopka, Weronika Smołka, Marcin Skrzypczyk, Leon Smółka   +3 more
doaj   +1 more source