Results 41 to 50 of about 11,358 (182)
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Acid sphingomyelinase deficiency (ASMD), historically known as Niemann‐Pick disease, is a rare and potentially fatal lysosomal storage disease caused by pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM).
Maria Cristina Robin +10 more
wiley +1 more source
Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder
Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan +10 more
wiley +1 more source
Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer +5 more
wiley +1 more source
Factors Affecting the Frequency of Infantile Diarrhea
Gomal Journal of Medical Sciences, 2004 Objective: Diarrhea is worldwide, one of most common illnesses among children. The objective of this study was to look for various factors contributing the infantile diarrheal episodes, especially feeding practices, that operate in this locality. Design:
Muhammad Hussain Khan +6 more
doaj
A Dialogue on Revolutions and Revolutionaries in Science: A Perspective From Quantum Mechanics
Natural Sciences, Volume 6, Issue 3, July 2026.ABSTRACT We discuss the notions of scientific revolutions and revolutionaries in the context of the Relativity Revolution and of the First, Second, and Third Quantum Revolutions. We conclude that at the core of the question of what qualifies as a revolution and revolutionary is an assessment of the gradients of knowledge accumulation over time, both at
Ron Folman, Bretislav Friedrich
wiley +1 more source
Infantile myofibromatosis. A case report
The Turkish Journal of Pediatrics, 1995 Infantile myofibromatosis is a rare mesenchymal disorder of infancy characterized by the formation of tumors in the skin, muscle, viscera, bone and subcutaneous tissue. The etiology of the disorder is unknown.
H Sarihan +3 more
doaj
European Journal of Neurology, Volume 33, Issue 7, July 2026.ABSTRACT Introduction Ataxia‐telangiectasia (AT) is characterized by progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased cancer susceptibility. No disease‐modifying treatment is available. This systematic review aimed to evaluate the efficacy and safety of pharmacological interventions for ataxia in pediatric AT. Method A
Fabiola Panvino +6 more
wiley +1 more source
Concepções maternas sobre a diarréia infantil Maternal conceptions of infantile diarrhea
Jornal de Pediatria, 2001 OBJETIVO: conhecer as concepções maternas sobre a diarréia infantil, estimulando a reflexão sobre a importância da comunicação entre as mães e os serviços de saúde.
Katia V. de O. Feliciano +1 more
doaj +1 more source
Hypertransaminasemia Is a Marker of Severity in Children Hospitalized for Influenza
Influenza and Other Respiratory Viruses, Volume 20, Issue 7, July 2026.ABSTRACT Purpose Elevated transaminases have been associated with increased severity in adult influenza cases, but data in the pediatric population are limited. This study aims to evaluate the prevalence, clinical characteristics and prognostic value of elevated transaminases in children hospitalized for influenza.
Marco Poeta +17 more
wiley +1 more source
Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents
Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1100-1198, July 2026.ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev +5 more
wiley +1 more source