Results 31 to 40 of about 1,718,768 (214)

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions: A Diagnostic Algorithm With Focus on Treatable Conditions [PDF]

, 2018
Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of common anti-epileptic drugs, either in order to ...
Nenad Blau, Carlos R. Ferreira, Horvath, Gabriella A, Bryan Sayson, Horvath, Gabriella A., Carlos R. Ferreira (6035918), Jessica J. Y. Lee, van Karnebeek, Clara D M, van Karnebeek, Clara D. M., Nenad Blau (3664690), Tseng, Laura A, Sayson, Bryan, Gabriella A. Horvath, Bryan Sayson (6035906), Gabriella A. Horvath (6035915), Ferreira, Carlos R, Ferreira, Carlos R., Clara D. M. van Karnebeek, Clara D. M. van Karnebeek (6035903), Lee, Jessica J Y, Lee, Jessica J. Y., Tseng, Laura A., Blau, Nenad, Jessica J. Y. Lee (6035909), Laura A. Tseng (6035912), Laura A. Tseng   +25 more
core   +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

Integrative Omics Analysis Reveals the Regulation of Hypoxia Tolerance in Large Yellow Croaker (Larimichthys crocea) via the Lipoic Acid Synthase (lias) Gene

Advanced Science, EarlyView.
Lipoic acid synthase (lias) can regulate α‐KG levels through lipoylation, thereby negatively regulating HIF‐1α protein levels via PHD under hypoixa. The Hap2 allele of lias exhibits lower expression levels than Hap1, leading to the accumulation of more HIF‐1α protein and thereby enhancing hypoxia tolerance. ABSTRACT Hypoxia stress seriously affects the
Jie Ding, Songpeng Jia, Ran Meng, Xuelei Wang, Xiongfei Wu, Weiliang Shen, Yibo Zhang, Junquan Zhu   +7 more
wiley   +1 more source

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study

Orphanet Journal of Rare Diseases
Background Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations ...
Anne-Sophie Renous, Lena Damaj, Magali Gorce, Magalie Barth, Antoine Bedu, Elise Sacaze, Delphine Lamireau, Cécile Laroche-Raynaud, Laurent Pasquier, Zoha Maakaroun-Vermesse, Marine Tardieu, François Labarthe   +11 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

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, EarlyView.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source

Harnessing Large‐Scale Multi‐Omics Data for Risk Prediction and Deep Phenotyping of Valvular Heart Diseases in the General Population

Advanced Science, EarlyView.
Large‐scale UK Biobank analyses identify clinical and proteomic signatures for early prediction of valvular heart disease and its subtypes. Proteins add predictive value for VHD, AVS, and MVR, with outcome‐specific compact panels showing translational potential. Multi‐layer evidence highlights matrix remodeling, protease regulation, immune inflammation,
Zhihao Jiang, Yang Liu, Mingyu Song, Ning Chen, Canqing Yu, Jun Lv, Eric Yuk Fai Wan, Lu Qi, Liming Li, Dianjianyi Sun, Bang Zheng   +10 more
wiley   +1 more source

DDIEM - Drug Database for inborn errors of metabolism

, 2020
DDIEM - Drug Database for inborn errors of metabolism is a database on therapeutic strategies for inborn errors of metabolism. These strategies are classified by mechanism and outcome in DDIEM ontology.
Marwa Abdelhakim (8295288), Allan Kamau (8337657), Robert Hoehndorf (38206), Dr Paul Schofield, Ali Raza Syed (8337654), Allan Kamau, Marwa Abdelhakim, Robert Hoehndorf, Senay Kafkas (6178748), Eunice McMurray (8337651), Dr Paul Schofield (8337660), Ali Raza Syed, Eunice McMurray, Senay Kafkas   +13 more
core   +2 more sources

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Molecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald   +11 more
doaj   +1 more source

Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation

International Journal of Neonatal Screening, 2023
Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marrow ...
Rodrigo Alfredo Morales Painamil, José Manuel González de Aledo-Castillo, Marta Teresa-Palacio, Ana Argudo-Ramírez, Rosa M. López-Galera, Abraham J. Paredes-Fuentes, Victoria Aldecoa-Bilbao, Miguel Alsina-Casanova   +7 more
doaj   +1 more source