Results 51 to 60 of about 4,207 (192)
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Brain β-Galactosidase and Gm1 Gangliosidosis [PDF]
Pediatric Research, 1974 Extract: Several properties of β-galactosidase obtained from brains of controls and patients with Gm1 gangliosidosis types I and II were studied. The pH optimum of β-galactosidase was 4 in both fetal and control brain. In contrast, the pH optimum of brain β-galactosidase in patients with either type I or type II Gm1 gangliosidosis was 3. The residual β-
L, Chou, C I, Kaye, H L, Nadler
openaire +2 more sources
A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. [PDF]
, 2010 Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons.
Ancer Rodríguez, Jesús +7 more
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Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
GM1 gangliosidosis: Case report
Medicinski pregled, 2010 Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions.
Slobodan Obradovic +5 more
openaire +3 more sources
Advanced Healthcare Materials, Volume 15, Issue 18, 15 May 2026.Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram +10 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2019 GM1 gangliosidosis is an autosomal recessive neurodegenerative disorder caused by the deficiency of lysosomal β-galactosidase (β-gal) and resulting in accumulation of GM1 ganglioside.
Yvonne L. Latour +8 more
doaj +1 more source
SERS‐Based Nano‐ and Microsystems Toward Biomedical Applications
Small, Volume 22, Issue 28, 18 May 2026.This review provides a current overview of nano‐ and microscale SERS‐based devices, encompassing all aspects from material design to practical applications. We highlight controlled SERS‐active architectures, including patterned substrates, nanorods, microspheres, micromotors, and microneedles, as well as combinations of these microfluidic systems.
Gohar Soufi +14 more
wiley +1 more source
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene
BMC Medical Genetics, 2017 Background Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly.
Parvaneh Karimzadeh +8 more
doaj +1 more source
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
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