Results 51 to 60 of about 7,809 (216)
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano +108 more
wiley +1 more source
Late-onset Tay-Sachs disease [PDF]
, 2017 We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of ...
Andrew W Barritt +18 more
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Animals, 2022 GM1 gangliosidosis is a progressive, recessive, autosomal, neurodegenerative, lysosomal storage disorder that affects the brain and multiple systemic organs due to an acid β-galactosidase deficiency encoded by the GLB1 gene.
Shahnaj Pervin +9 more
doaj +1 more source
GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case
Вопросы современной педиатрииBackground. GM2 gangliosidosis (Tay-Sachs disease, variant B, type I) is an orphan disease with autosomal recessive inheritance. It develops due to gangliosides accumulation in tissues and organs. The description of clinical case of GM2 gangliosidosis in
Artem A. Babkin +3 more
doaj +1 more source
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]
, 2018 Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S +7 more
core
Sphingolipids in Emotional Well‐Being
Journal of Neurochemistry, Volume 170, Issue 2, February 2026.Sphingolipids are essential constituents of neuronal membranes and are increasingly recognized as contributors to the key behavioral manifestations associated with emotional well‐being. ABSTRACT Emotional well‐being is a multifactorial concept, which comprises not only life quality of human individuals, but also their mental and physical health.
L. S. Kalinichenko +4 more
wiley +1 more source
Clinical findings in Brazilian patients with adult GM1 gangliosidosis
JIMD Reports, 2019 GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available, and only a few have focused on the adult form.
Luciana Giugliani +9 more
doaj +1 more source
Pathological findings of central nervous system, two GM1 gangliosidosis autopsy cases
The Turkish Journal of Pediatrics, 2019 GM1 gangliosidosis is an autosomal recessive lysosomal storage disease which is characterized by the accumulation of GM1 ganglioside, sphingolipids, glycoprotein bound oligosaccharides and keratan sulphate.
Doğuş Özdemir Kara, Ahmet Şahpaz
doaj +1 more source
Research on pharmacological chaperone for β-N-acetylhexosaminidase [PDF]
, 2016 富山大学・富医薬博甲第205号・中川 進平・2016/03 ...
中川 進平
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A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin. [PDF]
, 2013 Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other lipids within the lysosomes/late ...
Beltrami, Antonio Paolo +8 more
core +2 more sources