Results 101 to 110 of about 166,597 (269)

An X‐Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene

Movement Disorders, EarlyView.
Abstract Objective Pathogenic variants in B‐cell receptor‐associated protein (BCAP31) are associated with X‐linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non‐progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes
Martin Paucar, Tianyi Li, Åsa Bergendal, Irina Savitcheva, Kaveh Pourhamidi, José M. Laffita‐Mesa, Ann Nordgren, Martin Engvall, Per Uhlén, Kristina Lagerstedt‐Robinson, Per Svenningsson   +10 more
wiley   +1 more source

Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

Cell Reports, 2019
Summary: Inborn errors of metabolism (IEMs) link metabolic defects to human phenotypes. Modern genomics has accelerated IEM discovery, but assessing the impact of genomic variants is still challenging.
Min Ni, Ashley Solmonson, Chunxiao Pan, Chendong Yang, Dan Li, Ashley Notzon, Ling Cai, Gerardo Guevara, Lauren G. Zacharias, Brandon Faubert, Hieu S. Vu, Lei Jiang, Bookyung Ko, Noriko Merida Morales, Jimin Pei, Gonçalo Vale, Dinesh Rakheja, Nick V. Grishin, Jeffrey G. McDonald, Garrett K. Gotway, Markey C. McNutt, Juan M. Pascual, Ralph J. DeBerardinis   +22 more
doaj  

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

Molecular Genetics and Metabolism Reports, 2017
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
J. Pérez-López, L. Ceberio-Hualde, J.S. García-Morillo, J.M. Grau-Junyent, A. Hermida Ameijeiras, M. López-Rodríguez, J.C. Milisenda, M. Moltó Abad, M. Morales-Conejo, J.J. Nava Mateos   +9 more
doaj   +1 more source

Molecular Imprinting: The missing piece in the puzzle of abiogenesis? [PDF]

arXiv, 2018
In a neglected 2005 paper, Nobel Laureate Paul Lauterbur proposed that molecular imprinting in amorphous materials -- a phenomenon with an extensive experimental literature -- played a key role in abiogenesis. The present paper builds on Lauterbur's idea to propose imprint-mediated templating (IMT), a mechanism for prebiotic peptide replication that ...
arxiv  

Nephrolithiasis related to inborn metabolic diseases [PDF]

, 2009
Nephrolithiasis associated with inborn metabolic diseases is a very rare condition with some common characteristics: early onset of symptoms, family history, associated tubular impairment, bilateral, multiple and recurrent stones, and association with ...
A Pahari, AE Bobrowski, Aurélia Liutkus, B Shekarriz, Christine Saban, CJ Danpure, CS Woerden van, CY Pak, D Joly, DA Weinstein, DP Simpson, E Ristoff, G Berghe van den, G Rumsby, G Rumsby, GF Laube, GPA Smit, H Wong, JE Zerwekh, Jean-François Sabot, Justine Bacchetta, K Ichida, K Martens, L Dello Strologo, L Dello Strologo, Laurence Dubourg, M Boutros, M Brasseur-Daudry, M Daudon, M Daudon, MA Becker, Michel Daudon, N Blau, P Cochat, P Cochat, Pierre Cochat, RJ Torres, RJ Torres, S Brennan, S Kranen, SA Johnson, V Pietro Di, Valérie Pichault   +42 more
core   +2 more sources

Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

Genetics and Molecular Biology, 2019
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell ...
Moacir Wajner, Angela Sitta, Aline Kayser, Marion Deon, Ana C. Groehs, Daniella M. Coelho, Carmen R. Vargas   +6 more
doaj   +1 more source

Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China [PDF]

, 2012
Background Tandem mass spectrometry (MS/MS) has been available in China for 8 years. This technique makes it possible to screen for a wide range of previously unscreened inborn errors of metabolism (IEM) using a single test.
B Wilcken, D Nagaraja, DM McHugh, F Deodato, Fan Tong, HR Yoon, L Vilarinho, L Yang, Lili Yang, LS Han, LS Han, OY Al-Dirbashi, OY Al-Dirbashi, Rulai Yang, XF Gu, Xinwen Huang, Zhengyan Zhao   +16 more
core   +3 more sources

Metabolic Disorders: Inborn Errors of Amino Acid, Ammonia, Organic Acid, and Fatty Acid Metabolism

DeckerMed Medicine, 2015
The small molecule diseases include inborn errors of carbohydrate, ammonia, amino acid, organic acid, and fatty acid metabolism. They are central among the biochemical genetic disorders that may present with life-threatening illnesses during infancy and childhood. Many of these disorders are now detected through routine newborn screening.
Sameer S. Chopra, Gerard T. Berry
openaire   +1 more source

Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings

Pediatric Discovery, EarlyView.
Abstract Spina bifida is a birth defect resulting from abnormal embryonic development of the neural tube. Though spina bifida is divided into several subtypes, myelomeningocele—the most severe form of spina bifida often associated with a markedly diminished quality of life—accounts for a significant portion of cases.
Ethan S. Wong, Daniel A. Hu, Lily Zhang, Rachel Qi, Cindy Xu, Ou Mei, Guowei Shen, Wulin You, Changqi Luo, Tong‐Chuan He, Russell R. Reid, Lewis S. Shi, Michael J. Lee, Yi Zhu   +13 more
wiley   +1 more source

The Future Perspective: Metabolomics in Laboratory Medicine for Inborn Errors of Metabolism [PDF]

, 2017
Metabolomics can be described as a simultaneous and comprehensive analysis of small molecules in a biological sample. Recent technological and bioinformatics advances have facilitated large-scale metabolomic studies in many areas, including inborn errors
Sandlers, Yana
core   +2 more sources