Results 41 to 50 of about 42,467 (260)

Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience

Molecular Genetics and Metabolism Reports, 2021
Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs.
Katharina A. Schiergens, Katharina J. Weiss, Wulf Röschinger, Amelie S. Lotz-Havla, Joachim Schmitt, Robert Dalla Pozza, Sarah Ulrich, Birgit Odenwald, Joachim Kreuder, Esther M. Maier   +9 more
doaj   +1 more source

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain

Heliyon, 2019
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz   +8 more
doaj   +1 more source

Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China

Journal of clinical laboratory analysis (Print), 2020
Tandem mass spectrometry is a powerful technology available in China over the last 15 years. The development of tandem mass spectrometry had made it possible to rapidly screen newborns for inborn errors of metabolism.
Shujun Ma, Qinghe Guo, Zhongxin Zhang, Zhian He, Aizhi Yue, Zhishan Song, Qingwei Zhao, Xia Wang, Ruili Sun   +8 more
semanticscholar   +1 more source

Inborn errors of metabolism in the differential diagnosis of fatty liver disease.

The Turkish Journal of Gastroenterology, 2020
Nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease across all age groups. Obesity, diabetes, and metabolic syndrome, are the primary causes that are closely linked with the development of NAFLD.
Yılmaz Yıldız, H. Sivri
semanticscholar   +1 more source

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Orphanet Journal of Rare Diseases, 2018
Background Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality.
Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier   +7 more
doaj   +1 more source

Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism

Frontiers in Pediatrics, 2019
Hematopoietic stem cell transplantation (HSCT) has been established as an effective therapy for selected inborn errors of metabolism. The success of HSCT in metabolic disease is best exemplified through the treatment of Hurler's syndrome, a lysosomal ...
E. Y. Tan, J. Boelens, Simon A. Jones, R. Wynn   +3 more
semanticscholar   +1 more source

Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism.

The Journal of Applied Laboratory Medicine, 2020
BACKGROUND The application of whole-exome sequencing for the diagnosis of genetic disease has paved the way for systems-based approaches in the clinical laboratory.
Lisa A. Ford, A. Kennedy, K. Goodman, K. Pappan, A. M. Evans, Luke A. D. Miller, Jacob E. Wulff, Bobby R Wiggs, J. Lennon, S. Elsea, D. Toal   +10 more
semanticscholar   +1 more source

Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

Journal of Inborn Errors of Metabolism and Screening, 2015
Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr).
Roseani Andrade MSc, Vaneisse Monteiro MSc, Cléber Cruz MSc, Carla Silva BS, Adriana Bastos MSc, Luiz Silva PhD   +5 more
doaj   +1 more source

Newborn Screening for SCID: Experience in Spain (Catalonia)

International Journal of Neonatal Screening, 2021
Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing.
Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, Rosa López-Galera, Jose Luis Marín-Soria, Sonia Pajares-García, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Antonia Ribes, Judit García-Villoria, Pere Soler-Palacín   +14 more
doaj   +1 more source

Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study

Frontiers in Genetics, 2019
This study explored the effectiveness of expanding newborn screening (NBS) by tandem mass spectrometry (TMS) and gene diagnosis by next-generation sequencing (NGS). First, we described the characteristics of gene variants in Jiangsu Province.
Yuqi Yang, Leilei Wang, Ben-jing Wang, Shuang Liu, Bin Yu, Ting Wang   +5 more
semanticscholar   +1 more source