Results 181 to 190 of about 187,782 (312)

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
wiley   +1 more source

Double-outlet Right Ventricle with Subaortic Ventricular Septal Defect and Severe Pulmonary Valve Stenosis, but Only Minimal Cyanosis and No Murmur: A Paradox? [PDF]

J Cardiovasc Echogr
Patti M, Pozza A, Salvo GD, Milanesi O.
europepmc   +1 more source

Assessment of the vortex flow in the post-stenotic dilatation above the pulmonary valve stenosis in an infant using echocardiography vector flow mapping.

European Heart Journal, 2014
T. Honda, K. Itatani, K. Miyaji, M. Ishii   +3 more
semanticscholar   +1 more source

LKB1–AMPK Signaling Pathway in Cardiovascular and Other Diseases

MedComm, Volume 7, Issue 3, March 2026.
The LKB1–AMPK pathway has a central regulatory role in various diseases. Dysfunction of this pathway can lead to pathological processes in cardiovascular diseases (atrial fibrillation, myocardial infarction, myocardial hypertrophy, atherosclerosis), metabolic diseases (diabetes and kidney disease), neurodegenerative diseases (Alzheimer's disease ...
Zhuo Chen, Qin Yang, Guo‐Wei He
wiley   +1 more source

Severe Quadricuspid Pulmonary Valve Stenosis Presenting as Scrotal Edema. [PDF]

Radiol Cardiothorac Imaging
Liu D, Li Z, Zhang H, Li Z.
europepmc   +1 more source

Integrative Perinatal Management Enhanced the Advantage of Prenatal Diagnosis on Critical Pulmonary Valve Stenosis: An Observational Preliminary Study. [PDF]

Front Pediatr, 2020
Li J, Li G, Shi X, Wang C, Duan H, Zhou K, Hua Y, Li Y.   +7 more
europepmc   +1 more source

Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria

Prenatal Diagnosis, Volume 46, Issue 3, Page 315-328, March 2026.
ABSTRACT Introduction The neurodevelopmental outcome of ‘Cystic’ malformations of the posterior fossa with marked opening of the fourth ventricle, such as Dandy Walker malformation (DWM) and large Blake's pouch cyst (BPC), is a major issue. This study aimed to refine relevant MRI criteria for distinguishing DWM from BPC and identify prognostic factors.
Léa Schieffer, Catherine Garel, Laurent Guibaud, Christelle Rougeot‐Jung, Lydie Burglen, Mona Massoud, Dorothée Ville, Eléonore Blondiaux, Jean Marie Jouannic, Sara Cabet, Vincent DesPortes, Stéphanie Valence   +11 more
wiley   +1 more source

Symptomatic 9-Year-Old Girl With Cor Triatriatum Dexter, Atrial Septal Defect, and Severe Pulmonary Valve Stenosis. [PDF]

CASE (Phila)
Killen AW, Herbert A, Oketcho M, Muhoozi RM, Obongnyinge B, Lubega S, Aliku T.   +6 more
europepmc   +1 more source

Transpulmonary Stent Implantation for Dysplastic Pulmonary Valve Stenosis with a Single Left Coronary Ostium and Anomalous Prepulmonary Right Coronary Artery in an English Bulldog. [PDF]

CASE (Phila), 2020
Markovic LE, Whipp C, Morgan K, Almeida D, Hiremath G.   +4 more
europepmc   +1 more source

Obstetric and Neonatal Outcomes in Pregnancies From a Dedicated Cystic Fibrosis‐Maternal Health Service: A Retrospective Study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 4, Page 690-697, March 2026.
ABSTRACT Objective A comprehensive review of maternal, obstetric and neonatal outcomes in pregnancies in females with cystic fibrosis (fwCF) following the introduction of Elexacaftor/Tezacaftor/Ivacaftor (ETI) therapy in a novel, dedicated CF‐Maternal Health service.
Rebecca Scott, Amy Downes, Ladina Weitnauer, Rebecca Dobra, Natasha Singh, Rachel Robinson, Emily Diable, Saraha Collins, Elaine Bowman, Thomas Tobin, Andrew Jones, Nicholas Simmonds, Imogen Felton   +12 more
wiley   +1 more source