Results 91 to 100 of about 8,846 (292)

?Double-Trouble? for Respiratory Control in Pompe Disease [PDF]

, 2011
A commentary on ‘Hypoglossal neuropathology and respiratory activity in Pompe mice’, by Lee, K.-Z., Qiu, K., Sandhu, M. S., Elmullah, M. K., Falk, D. J., Lane, M. A., Reier, P. J., Byrne, B. J., and Fuller, D. D. (2011). Front. Physiol. 2:31.
Ken D. O'Halloran
core   +1 more source

A CASE OF “DEBRANCHER” GLYCOGENOSIS

Nihon Naika Gakkai Zasshi, 1971
糖原病第III型は“debrancher” enzymeの先天的欠損により,肝,骨格筋などに側鎖の短い異常グリコーゲンが蓄積する疾患であり,von Gierke病,Hers病などと共に,hepatomegalic typeの糖原病に属している.従来本邦では,hepatomegalic typeの糖原病のほとんどが,“von Gierke病”として取り扱われてきた感があるが,これらの疾患は,予後および治療の上でかなりの相違があり,ことに本疾患とvon Gierke病とを鑑別することは,臨床的に非常に重要であることを強調したい.本疾患の飢餓時の代謝はきわめて興味があり,本症例では空腹時に血糖が低下して,血中のNEFAおよびグリセロールが著しく上昇した.また本疾患の骨格筋組織の変化については,従来 ...
H, Ikeda, T, Murase, K, Nakao
openaire   +3 more sources

Aerobic capacity and muscle proteome: Insights from a mouse model

Experimental Physiology, Volume 110, Issue 2, Page 293-306, 1 February 2025.
Abstract We explored the association between aerobic capacity (AC) and the skeletal muscle proteome of McArdle (n = 10) and wild‐type (n = 8) mice, as models of intrinsically ‘low’ and ‘normal’ AC, respectively. AC was determined as total distance achieved in treadmill running until exhaustion.
Abel Plaza‐Florido, Alejandro Santos‐Lozano, Susana López‐Ortiz, Beatriz G. Gálvez, Joaquín Arenas, Miguel A. Martín, Pedro L. Valenzuela, Tomàs Pinós, Alejandro Lucia, Carmen Fiuza‐Luces   +9 more
wiley   +1 more source

Continuous glucose monitoring in children with glycogenosis

Alʹmanah Kliničeskoj Mediciny, 2017
Rationale: Glycogen storage diseases (GSD, glycogenosis) are a group of hereditary disorders of carbohydrate metabolism that is characterized by excess glycogen accumulation in various organs and tissues due to deficiency or absence of glycogen-splitting
T. V. Strokova, I. V. Prokhorova, A. G. Surkov, M. E. Bagaeva, E. V. Pavlovskaya, N. N. Taran, A. I. Zubovich   +6 more
doaj   +1 more source

Validation of ICD-9-CM coding algorithm for improved identification of hypoglycemia visits [PDF]

, 2008
Background Accurate identification of hypoglycemia cases by International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes will help to describe epidemiology, monitor trends, and propose interventions for this important ...
Lieberman Rebecca M, Blanc Phillip G, Ginde Adit A, Camargo Carlos A   +3 more
core   +1 more source

PRKAG2 ‐Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 1, January 2025.
ABSTRACT Nonimmune foetal hydrops is a prenatal condition associated with significant perinatal mortality. It has so far been associated with over 200 chromosomal and monogenic conditions, most frequently chromosomal aneuploidies and RASopathies. Thorough clinical phenotyping and genetic evaluation are essential to determine the underlying etiology of ...
Alexandre M. White‐Brown, Marilyn Richard, Anne‐Maude Morency, Chelsea Maedler‐Kron, Isabelle De Bie   +4 more
wiley   +1 more source

Increased aortic stiffness and blood pressure in non-classic Pompe disease [PDF]

, 2014
Vascular abnormalities and glycogen accumulation in vascular smooth muscle fibres have been described in Pompe disease. Using carotid-femoral pulse wave velocity (cfPWV), the gold standard methodology for determining aortic stiffness, we studied whether ...
A Nemes, A Nemes, A Paini, AH El-Gharbawy, AM Huijben, Ans T. van der Ploeg, AP Hoeks, AT Ploeg van der, BA Kingwell, BL Thurberg, C Collin, D Güngör, EJ Balkestein, Eric J. G. Sijbrands, Esther Brusse, Esther Kuperus, F Verbeke, Francesco U. S. Mattace-Raso, FU Mattace-Raso, H Kobayashi, HM Hout van den, Kees C. A. G. M. van Montfort, LM Bortel Van, LP Winkel, LP Winkel, Marjan Scheltens- de Boer, Michelle E. Kruijshaar, NA Beek van der, OI Soliman, P Laforet, Pieter A. van Doorn, S Laurent, S Sacconi, SC Dijk van, SS DeLoach, Stephan C. A. Wens, WE Braunsdorf, X Girerd   +37 more
core   +2 more sources

Muscle Diseases of Metabolic and Endocrine Derivation

Rheumato
Muscle function and pathology are complex subjects; the medical fields involved in their diagnosis and treatment represent rheumatology, physiatry and metabolic disease, among others.
Bruce Rothschild
doaj   +1 more source

“We Could Hold Our Own Here at Home”: Longitudinal Experience of COVID‐19 Lockdowns in Parents With Children Affected With Interstitial Lung Disease

Pediatric Pulmonology, Volume 60, Issue 1, January 2025.
ABSTRACT The global health emergency of COVID‐19 in early 2020 placed much of the population under quarantine. Interstitial Lung Disease in childhood (chILD) was recommended to be a pediatric clinically extremely vulnerable (CEV) group in April 2020 for shielding due to the unknown health consequences of COVID‐19 in children with chronic respiratory ...
Carlee Gilbert, Andrew Bush, Kate M. Bennett, Christopher Brown   +3 more
wiley   +1 more source

Comparative study of hormonal counterregulation during GCIIS-guided hypoglycemia tests using human Proinsulin and Human Insulin (recombinant DNA) [PDF]

, 1988
Schlechte ...
Ball, P., Bottermann, Peter, Henkel, E., Lühe, C. von der, Müller-Esch, G., Pfeiffer, E. F., Schlüter, K. J., Schlüter, K. J., Scriba, Peter Christian, Wood, W. G.   +9 more
core   +1 more source