Results 31 to 40 of about 11,732 (218)

Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism [PDF]

Archives of Ophthalmology, 1976
Inborn errors of metabolism comprise the mucolipidoses and abnormalities in the metabolism of carbohydrates and of lipids. A large number have ocular manifestations, some of which are essential to the specific diagnoses. The carbohydrate syndromes include galactosemia, with its characteristic cataracts; glycogen storage, with surprisingly few ocular ...
openaire   +2 more sources

Recon 2.2: from reconstruction to model of human metabolism. [PDF]

, 2016
IntroductionThe human genome-scale metabolic reconstruction details all known metabolic reactions occurring in humans, and thereby holds substantial promise for studying complex diseases and phenotypes.
Ang, Kok Siong, Borth, Nicole, Brewer, Judy, Dobson, Paul D, Gardiner, Natalie J, Gutierrez, Jahir M, Hanscho, Michael, Hefzi, Hooman, Kell, Douglas B, Kyriakopoulos, Sarantos, Lakshmanan, Meiyappan, Lee, Dong-Yup, Lewis, Nathan E, Li, Shangzhong, Liu, Joanne K, Martínez, Veronica S, Mendes, Pedro, Nielsen, Lars K, Orellana, Camila A, Quek, Lake-Ee, Smallbone, Kieran, Swainston, Neil, Thomas, Alex, Zanghellini, Juergen, Zielinski, Daniel C   +24 more
core   +5 more sources

Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations [PDF]

, 2012
Increasingly sophisticated measurement technologies have allowed the fields of metabolomics and genomics to identify, in parallel, risk factors of disease; predict drug metabolism; and study metabolic and genetic diversity in large human populations. Yet
Dumas, ME, Holmes, E, Nicholson, JK, Robinette, SL   +3 more
core   +1 more source

Síndrome de Chanarin-Dorfman Chanarin-Dorfman Syndrome

Revista Brasileira de Hematologia e Hemoterapia, 2010
A síndrome de Chanarin-Dorfman é uma doença rara autossômica recessiva, que pode estar associada à ictiose, caracteriza-se pela presença de gotículas lipídicas intracelulares em células dos mais variados tecidos, especialmente nos queratinócitos e ...
Sheila de Oliveira Garcia, Aline de Lima Deolindo, Juliana Pereira   +2 more
doaj   +1 more source

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations [PDF]

European Journal of Human Genetics, 2016
Protein-losing enteropathy (PLE) is a clinical disorder of protein loss from the gastrointestinal system that results in hypoproteinemia and malnutrition. This condition is associated with a wide range of gastrointestinal disorders. Recently, a unique syndrome of congenital PLE associated with biallelic mutations in the DGAT1 gene has been reported in ...
Joshi, Stephen, Thierry, Vilboux, Yael, Haberman, Hadass, Pri-Chen, Ben, Pode-Shakked, Sina, Mazaheri, Dina, Marek-Yagel, Ortal, Barel, Ayelet, Di Segni, Eran, Eyal, Goni, Hout-Siloni, Avishay, Lahad, Tzippora, Shalem, Gideon, Rechavi, May Christine V, Malicdan, Batia, Weiss, William A, Gahl, Yair, Anikster   +17 more
openaire   +2 more sources

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

JIMD Reports, 2019
Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological ...
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber   +6 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Integrated Single‐Cell and Spatial Transcriptomics Reveal Cell‐Type‐Specific Immune Regulatory Networks in Maize Responding to Southern Corn Rust

Advanced Science, EarlyView.
By integrating single‐nuclei and spatial transcriptomics, this study presents a stereoscopic landscape of maize leaf to Puccinia polysora infection. Epidermal and mesophyll cells initiate primary defenses via RLPs/RLKs and jasmonic acid signaling. Cell‐cell communication analyses further reveal the underlying the dynamics of the underlying immune ...
Qiongqiong Wang, Xinyan Sun, Yingchao Sun, Zeqiang Cheng, Zixiang Cheng, Shengbo Han, Ying Feng, Wenbo Yang, Huimin Li, Meichen Zhu, Xiaoling Wu, Jinghua Zhang, Jihua Tang, Honglian Li, Yanyong Cao, Canxing Duan, Yan Shi   +16 more
wiley   +1 more source

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives

Frontiers in Nutrition
Cobalamin (vitamin B12) is a vitamin with a defined role in human metabolism. Since its discovery in the 20th century, our understanding of its deficiency that results in multifaceted disorders with a significant impact on neurological health has evolved.
Arushi Gahlot Saini, Pradeep Kumar Gunasekaran, Asuri Narayan Prasad   +2 more
doaj   +1 more source