Results 241 to 250 of about 42,400 (289)

NDPACX: a newly defined X-linked Parkinsonian syndrome associated with <i>SLC9A6</i> hemizygote mutation. [PDF]

Brain Commun
Okochi R, Nihei Y, Ito D.
europepmc   +1 more source

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia. [PDF]

Front Endocrinol (Lausanne)
Skaf K, Fardipour M, Schmidt P, Bolmer E, Keller A, Lampe C, Jurgens J, Lindschau M, Palm K, Ruckdeschel S, Javanmardi B, Mohnike K.   +11 more
europepmc   +1 more source

Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024.

Public Health Genomics
Furuta Y, Agrawal NS, Owen NN, Bastarache LA, Shyr C, Geiger HU, Jackson S, Lauderdale CJ, Carter CR, Morgan KA, Hamid R, Phillips Iii JA, Tinker RJ.   +12 more
europepmc   +1 more source

Artificial Intelligence, Connected Care, and Enabling Digital Health Technologies in Rare Diseases With a Focus on Lysosomal Storage Disorders: Scoping Review.

J Med Internet Res
Spreafico AM, Neri L, Angel K, Bellettato CM, Scarpa M.   +4 more
europepmc   +1 more source

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Lysosomal Storage Disorders

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2014
Lysosomal storage disorders (LSDs) are genetic defects caused by lysosomal hydrolase deficiencies. These deficiencies lead to substrate accumulation affecting cells, tissues and organs. Detecting abnormal compound excretion and deficient enzymes assist diagnosis of these disorders for treatment and prevention.
G.M. Pastores, D.A. Hughes
  +5 more sources

Lysosomal Storage Disorders

2021
Abstract Lysosomes are membrane-bound organelles that degrade various macromolecules. Lysosomal storage diseases are a clinically, enzymatically, and genetically heterogeneous group of disorders resulting from intracellular accumulation of substrates.
Angela Sun, Irene J. Chang, Christina Lam, Gerard T. Berry   +3 more
openaire   +2 more sources

Lysosomal Biogenesis in Lysosomal Storage Disorders

Experimental Cell Research, 1997
Lysosomal biogenesis is an orchestration of the structural and functional elements of the lysosome to form an integrated organelle and involves the synthesis, targeting, functional residence, and turnover of the proteins that comprise the lysosome. We have investigated lysosomal biogenesis during the formation and dissipation of storage vacuoles in two
Karageorgos, L., Isaac, E., Brooks, D., Ravenscroft, E., Davey, R., Hopwood, J., Meikle, P.   +6 more
openaire   +4 more sources