Results 81 to 90 of about 3,943 (193)

Risk of hypertensive disorders in pregnancies with non‐immune hydrops fetalis and single fetal effusions

Pregnancy, Volume 1, Issue 4, July 2025.
Abstract Introduction Hydrops fetalis carries high risks of morbidity and mortality for the fetus, as well as obstetric risks such as hypertensive disorders, or mirror syndrome, for the pregnant person. We aimed to characterize the prevalence and types of hypertensive disorders diagnosed in pregnancies with non‐immune hydrops fetalis and single ...
Natalie B. Gulrajani, Diana C. Robles, Juan M. Gonzalez, Mary E. Norton, Teresa N. Sparks   +4 more
wiley   +1 more source

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Raphael Schiffmann
wiley   +1 more source

MR Imaging Findings in 2 Cases of Late Infantile GM1 Gangliosidosis [PDF]

, 2009
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De Grandis, E., Di Rocco, M., Pessagno, A., Rossi, A., Veneselli, E.   +4 more
core   +2 more sources

Magnetic Resonance Imaging as a Readout of CLN5 Gene Therapy Efficacy in Sheep

Brain and Behavior, Volume 15, Issue 4, April 2025.
Sheep with CLN5 Batten disease that received combination intracerebroventricular and intravitreal gene therapy underwent MRI scanning to assess global and regional brain volumes and determine the value of MRI to detect therapeutic efficacy. Sheep that were treated pre‐symptomatically underwent longitudinal scanning between 5 and 18 months of age, while
Samantha J. Murray, Mustafa M. Almuqbel, Simon A. Felton, Nickolas J. Palmer, Ashley R. Deane, Daniel J. Myall, Reza Shoorangiz, Arsène Ella, Matthieu Keller, David N. Palmer, Tracy R. Melzer, Nadia L. Mitchell   +11 more
wiley   +1 more source

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

PLoS ONE, 2013
Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis.
Daisuke Hasegawa, Shinji Tamura, Yuya Nakamoto, Naoaki Matsuki, Kimimasa Takahashi, Michio Fujita, Kazuyuki Uchida, Osamu Yamato   +7 more
doaj   +1 more source

Lysosomal storage diseases in Portugal: 10 years of experience in molecular studies at National Health Institute (2006-2016) [PDF]

, 2016
As Doenças Lisososomais de Sobrecarga (DLS) são um grupo de mais de 50 doenças hereditárias do metabolismo, sendo a maioria causada por defeitos em enzimas lisossomais específicas.
Alves, Sandra, Amaral, Olga, Coutinho, Maria Francisca, Duarte, Ana Joana, Matos, Liliana, Santos, Juliana Inês   +5 more
core  

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders [PDF]

, 2014
BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families.
Armstrong, J., Castiñeiras, D., Castro-Gago, M., Cocho, J., Couce, M., Eiris, J., Fernández-Marmiesse, A., Fraga, J., Gouveia, S., Lacerda, L., Morey, M., Pineda, M., Pérez-Poyato, M.   +12 more
core   +2 more sources

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

Journal of Lipid Research, 2007
GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by β-galactosidase deficiency attributable to mutations in the GLB1 gene.
Raül Santamaria, Amparo Chabás, John W. Callahan, Daniel Grinberg, Lluïsa Vilageliu   +4 more
doaj   +1 more source

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II [PDF]

, 2018
Background: Beta‐galactosidase‐1 ( GLB 1) is a lysosomal hydrolase that is responsible for breaking down specific glycoconjugates, particularly GM 1 (monosialotetrahexosylganglioside).
Brunetti-Pierri, Caciotti, Caulfield, Caulfield, Chocholousova, Crump, Deodato, Deodato, Elliot-Smith, Eswar, Feig, Fiesel, Gray-Edwards, Humphrey, Irwin, Jarnes Utz, Kasperzyk, Kayode, Lek, Li, López-Vallejo, Ohto, Overcash, Posse de Chaves, Privitera, Puschmann, Regier, Roberts, Santamaria, Suzuki, Weismann, Yang, Yoshida, Zhang, Zhang   +34 more
core   +1 more source

White matter changes in GM1 gangliosidosis

Indian Pediatrics, 2015
GM1 gangliosidosis is a disorder due to GLB1 gene mutation.A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging.Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing.We highlight the white matter changes in late infantile GM1 gangliosidosis.
Moni, Tuteja, Abdul Mueed, Bidchol, Katta Mohan, Girisha, Shubha, Phadke   +3 more
openaire   +2 more sources