Results 91 to 100 of about 9,849 (231)

Mapping gene associations in human mitochondria using clinical disease phenotypes [PDF]

, 2009
Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical ...
A Hamosh, A Spinazzola, AJ Butte, Andrey Rzhetsky, BB Lowell, C Eng, C Perez-Cerda, Curt Scharfe, D Skladal, DC Wallace, E Singer, Edward A. Allen, FW Sabb, G Benard, G Giaever, GM Enns, Gregory M. Enns, Guan-Cheng Li, H Prokisch, H Prokisch, Henry Horng-Shing Lu, HG Brunner, I Feldman, IH Witten, J Lim, JB Potash, JD Storey, JO Sass, Jutta K. Neuenburg, K Lage, KI Goh, L Franke, LG Biesecker, LM Steinmetz, MA Holliday, MA van Driel, MG Rosca, N Darin, N Freimer, O Elpeleg, P Braun, PF Chinnery, PM Nadkarni, R Delsite, R Ensenauer, R Luft, Ronald W. Davis, S Anderson, S Calvo, S DiMauro, SE Calvano, T Hernandez-Boussard, TD Vo, Thomas Klopstock, Tina M. Cowan, TM Dawson, V Tiranti, VK Mootha   +57 more
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MAPLE SYRUP URINE DISEASE [PDF]

Developmental Medicine & Child Neurology, 1968
G. W. Hatcher, C E Dent
  +6 more sources

Normothermic treatment in acute clinical encephalitis: a case report [PDF]

, 2008
Introduction Encephalitis is a common infection of the brain, associated with a high risk of mortality and morbidity despite intensive supportive therapy.
Hiroshi Kataoka, Katsuji Hirai, Mari Terashima, Satoshi Ueno   +3 more
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Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]

, 2013
Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A, Batla, A, Bhatia, KP, Bhatt, M, Houlden, H, Lai, SC, Lu, C-S, Schneider, SA, Stamelou, M, Yeh, T-H   +9 more
core  

Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults. [PDF]

, 2019
Thiamine (vitamin B1) is an essential nutrient that serves as a cofactor for a number of enzymes, mostly with mitochondrial localization. Some thiamine-dependent enzymes are involved in energy metabolism and biosynthesis of nucleic acids whereas others ...
Adams, Alfadhel, Alfadhel, Alfadhel, Aljabri, Anwar, Aronson, Arts, Attwell, Baio, Banka, Barennes, Benton, Bettendorff, Bettendorff, Biesecker, Brown, Butterworth, Butterworth, Butterworth, Calhau, Carney, Chandrakumar, Chen, Cheung, Chornyy, Chugani, Colbert, Croft, Day, De Meirleir, Fattal-Valevski, Fattal-Valevski, Fleming, Forouhi, Foulon, Foulon, Fraccascia, Fraccascia, Fraser, Frustaci, Fujita, Galvin, Ganapathy, Gangolf, Ganie, Ghaleiha, Gibson, Giulivi, Gold, Greenwood, Gu, Harel, Hiffler, Hilker, Inaba, Ishaque, Israels, Jankowska-Kulawy, Junior, Kamasak, Karabatsiakis, Kelley, Kerns, Khaw, Kitamura, Kornreich, Kril, Laforenza, Leichter, Lindhurst, Liu, Lonsdale, Lonsdale, Lonsdale, Lorber, Lu, Lukienko, Luxemburger, Lương, Ma, Magos, Mahajan, Mahmood, Martel, Martin, Mayr, McLure, Mergenthaler, Mezzar, Mimouni-Bloch, Molina, Mulholland, Mulle, Muoio, Murata, Nabokina, Nabokina, Nardone, Navarro, Nikseresht, Obrenovich, Oishi, Opdenakker, Ortega Garcia, Ortigoza-Escobar, Pepersack, Perez-Duenas, Plaitakis, Prabakaran, Prohaska, Rabie, Randle, Renthal, Rindi, Rindi, Robinson, Roust, Rubio-Lopez, Said, Schaller, Scrimshaw, Sequeira Lopes da Silva, Shi, Singleton, Siu, Skjeldal, Smidt, Society, Song, Sperringer, Spiegel, Stargrove, Subramanian, Subramanian, Sweet, Tabarki, Talwar, Thomson, Thornalley, van den Brink, Vasconcelos, Vernau, Vernau, Vimokesant, Watkins, Wendel, Whitfield, Whitfield, Wierzbicki, Williams, Yang, Zhang, Zhao, Zuccoli   +154 more
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Treatment of maple syrup urine disease with high flow hemodialysis in a neonate

The Turkish Journal of Pediatrics, 2019
Continious renal replacement therapy (CRRT) is a well recognizied treatment of choice in acute renal failure, however CRRT became a preferred treatment of metabolic emergencies with high leucine and ammonia levels like Maple syrup urine disease (MSUD ...
Fatih Aygün, Ertuğrul Kıykım, Çiğdem Aktuğlu-Zeybek, Tanyel Zubarioğlu, Halit Cam   +4 more
doaj   +1 more source

Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact

Journal of Biochemical and Clinical Genetics, 2019
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria.
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair   +2 more
doaj   +1 more source

3-Methylcrotonyl CoA Carboxylase Deficiency: Disorder or Just a Biochemical Phenotype? [PDF]

, 2012
Introduction: 3-methylcrotonyl-CoA carboxylase deficiency (MCCD) was considered extremely rare before newborn screening (NBS) was undertaken but is now found in a number of asymptomatic babies or sometimes their mothers.
Bueno, Maria, Fonseca, Helena, Lopes, Lurdes, Marcão, Ana, Rocha, Hugo, Sousa, Carmen, Vilarinho, Laura   +6 more
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An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene

Stem Cell Research, 2019
The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG
Haiyan Zhang, Yanyan Ma, Xiaomei Li, Xiaomeng Yang, Yue Li, Jingyun Guan, Rui Dong, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source

Molecular genetics of maple syrup urine disease in the Turkish population

The Turkish Journal of Pediatrics, 2009
In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of the multienzyme branched-chain alpha-keto acid dehydrogenase (BCKDH) complex.
Kerstin Gorzelany, Ali Dursun, Turgay Coşkun, Serap H Kalkanoğlu-Sivri, Gülden Fatma Gökçay, Mübeccel Demirkol, Oliver Feyen, Udo Wendel   +7 more
doaj