Results 71 to 80 of about 1,916,945 (216)
JIMD Reports, Volume 67, Issue 5, September 2026.ABSTRACT Glucose transporter deficiency syndrome type 1 (Glut1‐DS) is a rare neurometabolic disorder caused by pathogenic variants in SLC2A1, characterized by epilepsy, neurodevelopmental delay, movement disorders, dysarthria, intellectual disability, and postnatal microcephaly.
Lívia Maria Ferreira Sobrinho +11 more
wiley +1 more source
CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 9, September 2026.ABSTRACT Drug Combinations offer increased therapeutic efficacy and reduced toxicity compared with single agents. Understanding a drug combination's mechanisms of action (MoA) can provide important insights into therapeutic efficacy. The MoA of many FDA‐approved drugs, however, often remains unclear.
Rui‐Sheng Wang +5 more
wiley +1 more source
Niemann-Pick disease and hemophagocytic syndrome
, 2012 Hemophagocytic syndromes represent a severe hyperinflammatory condition with the cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly and hemophagocytosis induced by activated, morphologically benign macrophages.
KENDİRCİ, Mustafa +4 more
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Mechanisms of Dysmyelination in Niemann-Pick Type C Disease
, 2023 Lysosomal storage diseases (LSDs) are a group of over 70 inherited disorders that result in lysosomal dysfunction and accumulation of substrates. This lysosomal impairment leads to a variety of secondary effects within the cell including impaired ...
Kunkel, Thaddeus
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Unique molecular signature in mucolipidosis type IV microglia
Journal of Neuroinflammation, 2019 Background Lysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme and transporter deficiencies.
Antony Cougnoux +12 more
doaj +1 more source
Artificial Organs, Volume 50, Issue 9, Page 1305-1314, September 2026.This mixed methods study aimed to: (i) identify treatment expectations held by individuals with a ventricular assist device (VAD), (ii) assess the extent to which these expectations have been met, and (iii) examine how treatment expectations relate to VAD‐specific health‐related quality of life (HRQoL) ABSTRACT Objectives Treatment expectations ...
Simon Felix Zerth +10 more
wiley +1 more source
Mapping the Young‐Onset Dementia Research in the Asia‐Pacific Region: A Scoping Review
Asia-Pacific Psychiatry, Volume 18, Issue 3, September 2026.ABSTRACT Young‐onset dementia (YOD), with symptom onset before 65, is an area of increasing public health importance. YOD research in Asia‐Pacific remains under‐represented in the global YOD research landscape. This scoping review aimed to comprehensively map the existing YOD literature from Asia‐Pacific and provide an overview of the research topics ...
Gia Tan +15 more
wiley +1 more source
Reviews in Aquaculture, Volume 18, Issue 4, September 2026.This manuscript systematically elucidates the molecular mechanisms underlying absorption, transport, and metabolism of Astaxanthin in aquatic animals, through the analysis of biological functions, transport proteins, and enzyme metabolism system. Furthermore, it outlines future molecular research strategies for Astaxanthin, providing a theoretical ...
Huakang Peng +12 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2019 Lysosomal Storage Diseases (LSDs) are rare genetic diseases, the majority of which are caused by specific lysosomal enzyme deficiencies and all are characterized by malfunctioning lysosomes.
Evangelia Dimitriou +3 more
doaj +1 more source
The Pick Knitwear Story: 1856-1956
, 1956 An account of ]. PICK & SONS LTD LEICESTER Manufacturers for a hundred years.
Pick, J. B.
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