Results 51 to 60 of about 11,658 (188)

Expanded carrier screening for inherited genetic disease using exome and genome sequencing

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X‐linked (XL) disorders without the constraints of a predetermined ...
N. Belnap, K. Ramsey, A. Abraham, A. Ryan, S. Rangasamy, A. Bonfitto, M. Naymik, M. Huentelman, S. Strom, D. Perry, A. Subramaniam, W. W. Grody, S. Szelinger, V. Narayanan   +13 more
wiley   +1 more source

Metachromatic leukodystrophy associated with choledochal cysts and gallbladder papillomatosis

Journal of Pediatric Surgery Case Reports, 2019
Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A which is responsible for the desulfation of cerebroside sulfate, a myelin glycolipid.
Raed Al-Taher, Fareed Khdair Ahmad, Mohammad Rashdan, Ibrahim Khrais, Sahar Almustafa   +4 more
doaj  

Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy

Molecular and Cellular Pediatrics, 2020
Background Long-term outcomes of hematopoietic stem cell transplantation (HSCT) in children with juvenile metachromatic leukodystrophy (MLD) have been investigated systematically, while short-term effects of HSCT on the course of the disease remain to be
J. Beschle, M. Döring, C. Kehrer, C. Raabe, U. Bayha, M. Strölin, J. Böhringer, A. Bevot, N. Kaiser, B. Bender, A. Grimm, P. Lang, I. Müller, I. Krägeloh-Mann, S. Groeschel   +14 more
semanticscholar   +1 more source

Adult-Onset Metachromatic Leukodystrophy: Two Cases

Türk Nöroloji Dergisi, 2011
Metachromatic Leukodystrophy(MLD) is a lisosomal storage disorder which is characterized with arylsulphatase A deficiency. Enzyme deficiency results with demiyelination and storage of sulphatides in central nervous system.According to onset age;the ...
Gaye Eryaşar, Yeşim Beckmann, Yaprak Seçil   +2 more
doaj   +2 more sources

Multiple Sulfatase Deficiency

Pediatric Neurology Briefs, 1988
A 9-year-old girl with a phenotype similar to a mucopolysaccharidosis (MPS) and a clinical history characteristic of late infantile metachromatic leukodystrophy (MLD) is reported from the Department of Neurology, National Defense Medical Center, Taipei ...
J Gordon Millichap
doaj   +1 more source

Safety of Direct Intraparenchymal AAVrh.10-mediated CNS Gene Therapy for Metachromatic Leukodystrophy.

Human Gene Therapy, 2020
Metachromatic leukodystrophy (MLD), a fatal pediatric neurodegenerative lysosomal storage disease caused by mutations in the arylsulfatase A (ARSA) gene, is characterized by intracellular accumulation of sulfatides in the lysosomes of cells of the ...
J. Rosenberg, Alvin Chen, B. De, J. Dyke, D. Ballon, S. Monette, Rodolfo J Ricart Arbona, S. Kaminsky, R. Crystal, D. Sondhi   +9 more
semanticscholar   +1 more source

The Current Situation of Neurological Health in Bangladesh: A Perspective

Health Science Reports, Volume 8, Issue 3, March 2025.
ABSTRACT Background and Aims In Bangladesh, neurological disorders are becoming a bigger public health concern because they significantly increase disability, mortality, and medical costs. This review explores the current neurological health landscape in Bangladesh, with a focus on prevalent disorders such as stroke, epilepsy, Parkinson's disease, and ...
Mst. Mohona Khatun, Mohammad Shahangir Biswas, Suronjit Kumar Roy, Md Foyzur Rahman, Rubait Hasan, Syed Masudur Rahman Dewan, Munna Kumar Podder   +6 more
wiley   +1 more source

Comparison of Heparin Red, Azure A and Toluidine Blue assays for direct quantification of heparins in human plasma [PDF]

arXiv, 2017
Heparins are are sulfated polysaccharides that have tremendous clinical importance as anticoagulant drugs. Monitoring of heparin blood levels can improve patient safety. In clinical practice, heparins are monitored indirectly by their inhibtory effect on coagulation proteases.
arxiv  

Nano Approaches to Nucleic Acid Delivery: Barriers, Solutions, and Current Landscape

WIREs Nanomedicine and Nanobiotechnology, Volume 17, Issue 2, March/April 2025.
Nano approaches for breaking barriers to nucleic acid delivery. ABSTRACT Nucleic acid (NA) therapy holds tremendous potential for treating a wide range of genetic diseases by the delivery of therapeutic genes into target cells. However, significant challenges exist in safely and effectively delivering these genes to their intended locations.
Joan Castaneda Gonzalez, Ki Wan Park, Dallin Brian Evans, Rishi Sharma, Om Sahaym, Shamila Gopalakrishnan, Aqib Iqbal dar, Tulio A. Valdez, Anjali Sharma   +8 more
wiley   +1 more source

T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy

Clinical Neuroradiology, 2020
T2-weighted signal hyperintensities in white matter (WM) are a diagnostic finding in brain magnetic resonance imaging (MRI) of patients with metachromatic leukodystrophy (MLD).
Pascal Martin, G. Hagberg, T. Schultz, K. Harzer, U. Klose, B. Bender, T. Nägele, K. Scheffler, I. Krägeloh-Mann, S. Groeschel   +9 more
semanticscholar   +1 more source