Results 171 to 180 of about 31,724,613 (234)

Glycogen storage disease type VII (Tarui disease): a case report presenting a <i>PFKM</i> variant previously described only in canine models. [PDF]

Front Genet
Griffo M, Molitierno N, Napoli L, Ripolone M, Zanotti S, Fortunato F, Tumminello G, Moggio M, Locatelli M, Corti SP, Comi GP, Ronchi D.   +11 more
europepmc   +1 more source

Maternal protein restriction programs the ageing kidney: Proteomic signatures of early‐life origin renal and metabolic dysfunction

The Journal of Physiology, EarlyView.
Abstract figure legend Maternal protein restriction (MPR) induced persistent renal histopathological alterations accompanied by elevated serum creatinine levels. Nephron‐segment proteomic analysis revealed region‐specific molecular dysregulation affecting Bowman's capsule (PARK7, oxidative stress sensor; MSN, cytoskeletal organization), the proximal ...
Marina Pereira Pires, Matheus Naia Fioretto, Marcel Rodrigues Ferreira, Isabelle Tenori Ribeiro, Luísa Annibal Barata, Flávia Alessandra Maciel, Lucas Sobrinho Lemos, Renato Mattos, Luiz Marcos Frediane Portela, Patrick Vieira de Souza, Luisa Correia Gomes, Gustavo Monezzi Cordeiro, Wellerson Rodrigo Scarano, Patrícia Aline Boer, Jose Antonio Rocha Gontijo, Luis Antonio Justulin   +15 more
wiley   +1 more source

Biochemical Evaluation of Bone Health in Children with Phenylketonuria, Organic Acidemias, and Glycogen Storage Diseases Under Dietary Management. [PDF]

Nutrients
Gokalp S, Pasaoglu H.
europepmc   +1 more source

Construct Validity and Reliability of the OMNI Scale in Children and Adolescents With Neuromuscular Diseases

Muscle &Nerve, Volume 74, Issue 5, Page 1421-1428, November 2026.
ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Juliana Cardoso, Clara Corsete Tonoli, Beatriz Parra Buzzetti, Gabriela Barroso Davoli, Ana Claudia Mattiello‐Sverzut   +4 more
wiley   +1 more source

New insights in pediatric metabolic medicine: pathogenesis of cholesterol biosynthesis defects and innovative therapies for Pompe disease [PDF]

, 2007
Rossi, Emiliano
core   +1 more source

Genome Editing for Glycogen Storage Diseases. [PDF]

J Inherit Metab Dis
von Beck T, Wang R, Koeberl D.
europepmc   +1 more source

Wasteosomes accumulate in periventricular white matter hyperintensities and exhibit complex relationships with mixed pathology, sclerotic index, and perivascular space

Brain Pathology, Volume 36, Issue 6, November 2026.
In a mixed diagnostic cohort of pathologically diagnosed Alzheimer's disease, cerebrovascular disease, mixed pathology, and control tissue, we connected the histopathological wasteosome profile in periventricular (PV) brain sections to 7T FLAIR‐MRI confirmed PV white matter hyperintensities (WMHs), vascular stenosis and perivascular space size ...
Nikita Ollen‐Bittle, Isabella Boesgaard, Austyn Roseborough, Meaghan Frank, Qi Zhang, Stephen H. Pasternak, Robert Hammond, Shawn N. Whitehead   +7 more
wiley   +1 more source

Iodine Staining of Glycogen Storage in <i>Caenorhabditis elegans</i>. [PDF]

Bio Protoc
Daghar H, Samarut É, Parker AJ.
europepmc   +1 more source

Euglycemic Diabetic Ketoacidosis Mimicking an Acute Asthma Exacerbation in a Young Adult With New‐Onset Diabetes: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Euglycemic diabetic ketoacidosis can mimic acute asthma, including in previously undiagnosed diabetes and without SGLT‐2 inhibitor use. Carbohydrate restriction may precipitate life‐threatening ketoacidosis, particularly with insulin deficiency.
Faizan E Mustafa, Sarim Hassan Shahab, Basit Ali, Aleena Majeed, Fazal Habib, Muhammad Sajjad   +5 more
wiley   +1 more source