Results 71 to 80 of about 24,692 (277)

Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: Accurate postnatal diagnosis and the potential for prenatal diagnosis of canavan disease [PDF]

, 1991
A sensitive and selective analytical technique is described for the determination of N-acetylaspartic acid in body fluids using stable isotope dilution in combination with positive chemical ionization mass spectrometry with selected ion monitoring ...
Brink, H.J. (H.) ten, Jakobs, C. (Cornelis), Kleijer, W.J. (Wim), Langelaar, M.F.M. (Merel), Macek, M. (Milan MI), Sršeň, S. (S.), Sršňová, K. (K.), Stellaard, F. (Frans), Zee, T. (Tom)   +8 more
core   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model

eLife, 2020
Mutations in TUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy, often associated with a recurring variant p.Asp249Asn (D249N).
Sunetra Sase, Akshata A Almad, C. Boecker, P. Guedes-Dias, Jian J. Li, A. Takanohashi, Akshilkumar Patel, T. McCaffrey, Heta Patel, Divya Sirdeshpande, J. Curiel, Judy S. Liu, Q. Padiath, E. Holzbaur, S. Scherer, A. Vanderver, A. Vanderver   +16 more
semanticscholar   +1 more source

Enzyme replacement therapies: What is the best option? [PDF]

, 2018
Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Barar, Jaleh, Khiavi, Mostafa Akbarzadeh, Mousavi, Rahimeh, Rafi, Mohammad, Safary, Azam   +4 more
core   +2 more sources

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

Role of the Bifunctional Aminoacyl-tRNA Synthetase EPRS in Human Disease [PDF]

, 2020
Aminoacyl-tRNA synthetases (AARS) are a class of enzymes that catalyze the charging of tRNAs with cognate amino acids, a critical step that contributes to the fidelity of protein synthesis.
Kudlapur, Nathan
core  

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Microglia damage precedes major myelin breakdown in X‐linked adrenoleukodystrophy and metachromatic leukodystrophy

Glia, 2019
X‐linked adrenoleukodystrophy (X‐ALD) and metachromatic leukodystrophy (MLD) are two relatively common examples of hereditary demyelinating diseases caused by a dysfunction of peroxisomal or lysosomal lipid degradation.
C. Bergner, F. van der Meer, A. Winkler, Claudia Wrzos, Mevlude Türkmen, Emil Valizada, D. Fitzner, S. Hametner, C. Hartmann, S. Pfeifenbring, G. Stoltenburg‐Didinger, W. Brück, S. Nessler, C. Stadelmann   +13 more
semanticscholar   +1 more source

Geographic and Specialty Access Disparities in U.S. Pediatric Leukodystrophy Diagnosis

Jornal de Pediatria, 2020
Objectives To examine disparities in the diagnosis of leukodystrophies including geographic factors and access to specialty centers. Study design Retrospective cohort study of pediatric patients admitted to Pediatric Health Information System hospitals ...
S. Grineski, D. Morales, Timothy W. Collins, Jacob Wilkes, J. Bonkowsky   +4 more
semanticscholar   +1 more source

Perforin gene transfer into hematopoietic stem cells improves immune dysregulation in murine models of perforin deficiency [PDF]

, 2014
Defects in perforin lead to the failure of T and NK cell cytotoxicity, hypercytokinemia, and the immune dysregulatory condition known as familial hemophagocytic lymphohistiocytosis (FHL).
Alonso-Ferrero, ME, Arumugam, P, Baum, C, Blundell, MP, Carmo, M, Gaspar, HB, Hontz, AE, Jordan, MB, Malik, P, Montiel-Equihua, CA, Risma, KA, Schambach, A, Thrasher, AJ, Tiwari, S   +13 more
core   +2 more sources