Results 61 to 70 of about 32,945 (208)

Tests for Suspected Inborn Errors of Metabolism

, 1995
The initial laboratory assessment of infants and children with suspected inborn errors of metabolism (IEM) is reviewed by the Department of Medical Genetics, Mayo Clinic, Rochester ...
J Gordon Millichap
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Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay–Sachs Disease

Pharmaceutics
Background/Objectives: Tay–Sachs disease (TSD) is a neurodegenerative disorder caused by a deficiency in β-hexosaminidase A (HexA), which accumulates GM2 gangliosides, primarily in neurons.
Jacky M. Guerrero-Vargas, Diego A. Suarez-Garcia, Andrés F. Leal, Ivonne L. Diaz-Ariza, León D. Pérez-Pérez, Angela J. Espejo-Mojica, Carlos J. Alméciga-Díaz   +6 more
doaj   +1 more source

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

Treatment of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire   +2 more sources

Liver-directed gene-based therapies for inborn errors of metabolism

, 2021
Inborn errors of metabolism include several genetic disorders due to disruption of cellular biochemical reactions. Although individually rare, collectively they are a large and heterogenous group of diseases affecting a significant proportion of patients.
Piccolo, Pasquale, Brunetti-Pierri, Nicola, Rossi, Alessandro   +2 more
core   +1 more source

Hepatic-Based Inborn Errors of Metabolism

, 2015
Inborn errors of metabolism (IEMs) are a vast, diverse, and heterogeneous set of genetic disorders. Hepatic-based IEMs are a significant cause of morbidity and mortality, and represent a common indication for liver transplantation (LTx) in the ...
Tormod Lund
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Inborn errors of enzymes in glutamate metabolism [PDF]

, 2020
Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism.
Verhoeven-Duif, Nanda, Peter M. van Hasselt, Jans, Judith Jm, Lynne Rumping, Vringer, Esmee, Roderick H. J. Houwen, Nanda M. Verhoeven‐Duif, van Hasselt, Peter M, Judith J. M. Jans, Houwen, Roderick Hj, Esmee Vringer, Rumping, Lynne   +11 more
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Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

Journal of Lipid Research
The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero, José Manuel González de Aledo-Castillo, Cristina Fernández Sierra, Carmen Martínez Carreira, Carles Zaragoza Bonet, Rosa Fernández Bonifacio, Maria Antònia Caro Miró, Ana Argudo-Ramírez, Rosa María López Galera, Judit García-Villoria   +9 more
doaj   +1 more source

Screening for inborn errors of metabolism : report of a WHO scientific group [meeting held in Geneva from 20 to 26 November 1967]

, 1968
Copy 2 of English, French and Spanish eds.
World Health Organization, WHO Scientific Group on Screening for Inborn Errors of Metabolism   +1 more
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Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study

, 2006
Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth, Sarbadhikari SN, S N, Sarbadhikari, Kavitha S, Ananth N Rao, S, Kavitha   +5 more
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