Results 71 to 80 of about 58,838 (349)

Inborn Errors of Metabolism

, 2016
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
openaire   +4 more sources

An Allele of Glutamate Formiminotransferase Triggers 5‐Methyl‐Tetrahydrofolate‐to‐MeFox Conversion and Facilitates Folate Biofortification in Maize

Advanced Science, EarlyView.
This work demonstrates the distinct roles of the glutamate formiminotransferase (GFT) enzyme in plants. The GFT triggers the conversion of 5‐methyl‐tetrahydrofolate to MeFox in plants, a process distinct from its role as a formiminotransferase in mammals.
Tong Lian, Wenzhu Guo, Yanjing Wang, Weiwei Wen, Weixuan Wang, Ling Jiang, Qiuju Liang, Ji'an Liu, Haijun Liu, Yuan Xue, Lixu Pan, Qiaoquan Liu, Ping Yin, Delin Zhang, Jianbing Yan, Chunyi Zhang   +15 more
wiley   +1 more source

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Case Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins   +4 more
doaj   +1 more source

An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders

Dialogues in Clinical Neuroscience, 2018
Inborn errors of metabolism (IEMs) are particularly frequent as diseases of the nervous system. In the pediatric neurologic presentations of IEMs neurodevelopment is constantly disturbed and in fact, as far as biochemistry is involved, any kind of ...
J. Saudubray, A. Garcia-Cazorla
semanticscholar   +1 more source

LABRAD : Vol 41, Issue 3 - December 2015 [PDF]

, 2015
Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
core   +1 more source

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]

, 2001
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Clements JA, Crouch E, deMello DE, Dirksen U, Doyle IR, Fisher JH, Floros J, Glasser SW, Green D, Hawgood S, Ikegami M, Ikegami M, Ikegami M, Kitamura T, Kresch MJ, Madan T, Mahut B, Mason RJ, Myrianthopoulos NC, Nogee LM, Pilot-Matias TJ, Power JHT, Prakash UBS, Reed JA, Robertson B, Rosen SH, Stoll BJ, Tredano M, Vorbroker DK, Wang J-Y   +29 more
core   +1 more source

AGAPIR: A Novel PIWI‐Interacting RNA Enhancing Post‐Decompression Angiogenesis in Degenerative Cervical Myelopathy

Advanced Science, EarlyView.
The restoration of blood flow following surgical decompression for degenerative cervical myelopathy (DCM) significantly contributes to the amelioration of neurological deficits. This study identifies AGAPIR, an angiogenesis‐associated PIWI‐interacting RNA, enhances angiogenesis and motor function recovery post‐spinal cord decompression in a mouse model
Yongheng Xie, Yiling Peng, Tianyu Qin, Cuimei Chen, Zhenxiao Ren, Naibo Feng, Chungeng Liu, Songlin Peng, Houqing Long   +8 more
wiley   +1 more source

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

Human Mutation, 2018
The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases.
Diane B. Zastrow, H. Baudet, W. Shen, Amanda Thomas, Y. Si, Meredith A. Weaver, Angela M. Lager, Jixia Liu, Rachel Mangels, S. Dwight, M. W. Wright, S. Dobrowolski, K. Eilbeck, G. Enns, A. Feigenbaum, U. Lichter-Konecki, E. Lyon, M. Pasquali, M. Watson, N. Blau, R. Steiner, W. Craigen, R. Mao   +22 more
semanticscholar   +1 more source

A Coding SNP in GmPM30 Enhances Soybean Salinity Tolerance and Yield through the GmLEA1‐GmPM30‐GmLEC1 Module

Advanced Science, EarlyView.
A natural variation in soybean PM30, GmPM30‐HapT, confers greater salt tolerance than GmPM30‐HapC via stronger GmLEA1‐GmPM30‐GmLEC1 interactions. Pyramiding their elite haplotypes yields additive gains in salt tolerance and yield, establishing a novel workflow linking evolutionary genomics, molecular mechanisms, and breeding applications via the module
Shiyu Huang, Yuhan Xia, Jingting Yang, Yujun Si, Xue Chen, Hao Zhang, Tianshi Liu, Wenyu Zheng, Xin Chen, Zhongjuan Zhao, Xiaojian Zheng, Qing Lu, Shuo Li, Fengning Xiang   +13 more
wiley   +1 more source

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +1 more source