المؤلفون: H.F.M. Busch, Jan M. Bogaard, I. E. M. Luyt-Houwen, Henk D. Bakker, Hans R. Scholte, L. Kuyt

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1271(1):75-83

مصطلحات موضوعية: Adult, Male, Adolescent, Biopsy, Myopathy, Riboflavin, Encephalomyopathy, Oxidative phosphorylation, Biology, Mitochondrion, Electron Transport Complex IV, Consanguinity, chemistry.chemical_compound, Sarcolemma, Oxidoreductase, Carnitine, Lactic acidemia, NAD(P)H Dehydrogenase (Quinone), Cardiolipin, medicine, Humans, Cytochrome c oxidase, Child, Muscle, Skeletal, Molecular Biology, Fatigue, chemistry.chemical_classification, Succinate dehydrogenase, Complex I deficiency, Mitochondria, Muscle, Pedigree, Succinate Dehydrogenase, chemistry, Biochemistry, biology.protein, Succinate Cytochrome c Oxidoreductase, Molecular Medicine, Female, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6d7af54916e80fa2d19ff7e65c0b739Test

المؤلفون: Ulrike Steuerwald, René Santer, Carlo Dionisi-Vici, Rosalba Carrozzo, Frodi Joensen, Leo A. J. Kluijtmans, Eva Morava, Ron A. Wevers

المصدر: Mitochondrion, 9, 438-42
Mitochondrion, 9, 6, pp. 438-42

مصطلحات موضوعية: Male, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Adolescent, Hearing loss, SUCLA2, Hearing Loss, Sensorineural, Methylmalonic acid, Biology, Gastroenterology, Models, Biological, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Young Adult, Internal medicine, Succinate-CoA Ligases, medicine, Perception and Action [DCN 1], Valerates, Humans, Child, Molecular Biology, Genetics, Dystonia, Muscle biopsy, Splice site mutation, medicine.diagnostic_test, Intermittent lactic acidemia, Homozygote, Infant, Cell Biology, medicine.disease, Hypotonia, Mitochondrial medicine [IGMD 8], chemistry, Child, Preschool, Lactates, Molecular Medicine, medicine.symptom, Functional Neurogenomics [DCN 2], Biomarkers, Metabolic Networks and Pathways, Methylmalonic Acid

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf2f557ef34915634eeb8e2ec3a09faTest
http://hdl.handle.net/2066/80876Test

المؤلفون: Rake, JP, van Spronsen, FJ, Visser, G, Ruitenbeek, W, Schweizer, JJ, Bijleveld, CMA, Peeters, PMJG, de Jong, KP, Slooff, MJH, Reijngoud, DJ, Niezen-Koning, KE, Smit, GPA

المصدر: Rake , JP , van Spronsen , FJ , Visser , G , Ruitenbeek , W , Schweizer , JJ , Bijleveld , CMA , Peeters , PMJG , de Jong , KP , Slooff , MJH , Reijngoud , DJ , Niezen-Koning , KE & Smit , GPA 2000 , ' End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency : no contra-indication for liver transplantation ' , European Journal of Pediatrics , vol. 159 , no. 7 , pp. 523-526 .

مصطلحات موضوعية: end-stage liver disease, liver transplantation, inborn errors of metabolism, mitochondrial respiratory chain deficiency, OXIDATIVE-PHOSPHORYLATION, HEPATIC-FAILURE, LACTIC ACIDEMIA, NEONATAL-ONSET, DEPLETION, CYTOPATHY, DISORDERS, CHILDHOOD, DNA, CHOLESTASIS

العلاقة: https://research.rug.nl/en/publications/fa7683ce-d3ee-4087-813c-5e1543f25e93Test

الإتاحة: https://hdl.handle.net/11370/fa7683ce-d3ee-4087-813c-5e1543f25e93Test
https://research.rug.nl/en/publications/fa7683ce-d3ee-4087-813c-5e1543f25e93Test

المؤلفون: Rake, JP, van Spronsen, FJ, Visser, G, Ruitenbeek, W, Schweizer, JJ, Bijleveld, CMA, Peeters, PMJG, de Jong, KP, Slooff, MJH, Reijngoud, DJ, Niezen-Koning, KE, Smit, GPA

المساهمون: Faculteit Medische Wetenschappen/UMCG, Groningen Institute for Organ Transplantation (GIOT), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: European Journal of Pediatrics, 159(7), 523-526. SPRINGER

مصطلحات موضوعية: LACTIC ACIDEMIA, liver transplantation, end-stage liver disease, DISORDERS, CHILDHOOD, HEPATIC-FAILURE, CHOLESTASIS, inborn errors of metabolism, DNA, NEONATAL-ONSET, mitochondrial respiratory chain deficiency, OXIDATIVE-PHOSPHORYLATION, DEPLETION, CYTOPATHY

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::886b9130a1b29000f80ed904ecea051aTest
https://research.rug.nl/en/publications/fa7683ce-d3ee-4087-813c-5e1543f25e93Test

المؤلفون: 内藤 悦雄, 島川 清司, 西村 美緒

المصدر: http://www.tokushima-med.jrc.or.jp/hospital/medical/2007pdf/010.pdfTest.

مصطلحات موضوعية: 先天性高乳酸血症, ピルビン酸脱水素酵素複合体欠損症, 遺伝子解析, E１αサブユニット遺伝子変異, ジクロロ酢酸ナトリウム, congenital lactic acidemia, pyruvate dehydrogenase complex deficiency, genetic analysis, mutation in the E１α subunit, sodium dichloroacetate

العلاقة: https://redcross.repo.nii.ac.jp/?action=repository_uri&item_id=3323Test; http://id.nii.ac.jp/1063/00003194Test/; 徳島赤十字病院医学雑誌 = Tokushima Red Cross Hospital Medical Journal, 12(1), 59-64(2007-03-01); https://redcross.repo.nii.ac.jp/?action=repository_action_common_download&item_id=3323&item_no=1&attribute_id=22&file_no=1Test

الإتاحة: https://redcross.repo.nii.ac.jp/?action=repository_uri&item_id=3323Test
http://id.nii.ac.jp/1063/00003194Test/
https://redcross.repo.nii.ac.jp/?action=repository_action_common_download&item_id=3323&item_no=1&attribute_id=22&file_no=1Test

المؤلفون: Andrew Carr A

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.natap.org/2001/may/osteo_carr_april.pdfTest.

مصطلحات موضوعية: osteoporosis, lactic acidemia, mitochondrial toxicity, antiretroviral

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.381.7425Test; http://www.natap.org/2001/may/osteo_carr_april.pdfTest

الإتاحة: http://www.natap.org/2001/may/osteo_carr_april.pdfTest

المؤلفون: Gail R. Goldberg, Carol L. Greene

المصدر: Journal of pediatric health care : official publication of National Association of Pediatric Nurse AssociatesPractitioners. 6(4)

مصطلحات موضوعية: Primary lactic acidemia, business.industry, Prenatal diagnosis, Metabolism, Bioinformatics, Pediatrics, Perinatology and Child Health, Medicine, Inheritance Patterns, Humans, Acidosis, Lactic, medicine.symptom, business, Child, Metabolism, Inborn Errors, Acidosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::322e89ff56d09e8eb77415ca8f140e32Test
https://pubmed.ncbi.nlm.nih.gov/1507006Test

المؤلفون: Yoshihiro Horii, Michinori Ito, Seiko Kitamura, Takahiko Saijo, Ichiro Yokota, Etsuo Naito, Yasuhiro Kuroda, Yukiko Ogawa, Junko Matsuda, Eiko Takada

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. (1):79-84

مصطلحات موضوعية: Male, Pyruvate decarboxylation, Pyruvate dehydrogenase complex deficiency, Pyruvate Dehydrogenase Complex, Biology, chemistry.chemical_compound, Lactic acidemia, Thiamine treatment, medicine, Humans, Point Mutation, Lactic Acid, Lymphocytes, Thiamine, Child, Pyruvate Dehydrogenase Complex Deficiency Disease, Molecular Biology, Cells, Cultured, Binding Sites, Infant, food and beverages, Exons, Pyruvate dehydrogenase complex, medicine.disease, Molecular biology, Pyruvate dehydrogenase deficiency, chemistry, TPP binding region, Molecular Medicine, E1α subunit, Thiamine pyrophosphate, Pyruvate Decarboxylase, Pyruvate decarboxylase, Thiamine pyrophosphate binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c3e3947c09e5d66d273e3315f213dc3Test

مصطلحات الفهرس: Bowel ligation, Damage control, Traumatic shock, Lactic acidemia, Cardiac output, Vascular resistance, Medical and Health Sciences, Medicin och hälsovetenskap, Article in journal, info:eu-repo/semantics/article, text

URL: http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-17794Test
Journal of Trauma, 0022-5282, 2006, 61:1, s. 185-191

مصطلحات الفهرس: Carnitine, Complex I deficiency, Encephalomyopathy, Lactic acidemia, Mitochondrion, Myopathy, Oxidative phosphorylation, Riboflavin, info:eu-repo/semantics/article

URL: http://repub.eur.nl/pub/66958Test