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Orphanet journal of rare diseases, ISSN 1750-1172, 07/2018, Volume 13, Issue 1, pp. 120 - 10
textabstractBackground: Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex... 
Neonatal | Activities of daily living | Prognosis | Treatment | Cardiomyopathy | Heart transplantation | Vitamin | Complex I | Lactic acidosis | Mitochondrial disorder | OXIDATION | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | MITOCHONDRIAL | DISORDERS | COMPLEX I DEFICIENCY | PHENOTYPIC SPECTRUM | SKELETAL-MUSCLE | GENETICS & HEREDITY | MUTATIONS | BEZAFIBRATE | Mitochondrial Diseases - pathology | Humans | Mitochondrial Diseases - metabolism | Male | Acidosis - metabolism | Electron Transport Complex I - metabolism | Muscle Weakness - genetics | Activities of Daily Living | Amino Acid Metabolism, Inborn Errors - metabolism | Amino Acid Metabolism, Inborn Errors - genetics | Muscle Weakness - pathology | Female | Amino Acid Metabolism, Inborn Errors - pathology | Acyl-CoA Dehydrogenase - genetics | Mitochondrial Diseases - genetics | Acyl-CoA Dehydrogenase - metabolism | Cardiomyopathy, Hypertrophic - genetics | Riboflavin - therapeutic use | Cardiomyopathy, Hypertrophic - metabolism | Acyl-CoA Dehydrogenase - deficiency | Acidosis - pathology | Muscle Weakness - drug therapy | Muscle Weakness - metabolism | Acidosis - genetics | Cardiomyopathy, Hypertrophic - pathology | Vitamin B2 | Care and treatment | Mitochondrial diseases | Genetic aspects | Testing | Dehydrogenases | Disease | Genes | Riboflavin | Amino acids | Mitochondrial DNA | Patients | Medical prognosis | Vitamin B | Fibroblasts | Mutation | Supplementation | Age
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1130 - 1145
Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a... 
VIALETTO-VAN LAERE | COFACTORS | ELECTRON-TRANSFER FLAVOPROTEIN | ESCHERICHIA-COLI | MITOCHONDRIA | DISEASE | GENETICS & HEREDITY | OVER-EXPRESSION | SYNTHETASE | FUNCTIONAL-CHARACTERIZATION | ISOFORM 2 | Mitochondrial Diseases - pathology | Electron Transport | Liver - pathology | Skin - metabolism | Humans | Infant | Male | Muscle, Skeletal - metabolism | Gene Expression Profiling | Riboflavin - pharmacology | Case-Control Studies | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - drug therapy | Young Adult | Flavin-Adenine Dinucleotide - metabolism | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics | Liver - drug effects | Muscle, Skeletal - drug effects | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - pathology | Adult | Female | Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization | Real-Time Polymerase Chain Reaction | Frameshift Mutation - genetics | Infant, Newborn | Skin - pathology | Fibroblasts - metabolism | Mitochondrial Diseases - genetics | Mitochondrial Diseases - drug therapy | Mutagenesis, Site-Directed | Liver - metabolism | RNA, Messenger - genetics | Cells, Cultured | Fibroblasts - pathology | Reverse Transcriptase Polymerase Chain Reaction | Vitamin B Complex - pharmacology | Blotting, Western | Fibroblasts - drug effects | Nucleotidyltransferases - genetics | Protein Binding | Muscle, Skeletal - pathology | Skin - drug effects | Vitamin B2 | Oxidoreductases | Gene mutations | Health aspects | Life Sciences
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 11 - 22
Journal Article
Journal Article
by Abbott, B. P and Abbott, R and Abbott, T. D and Acernese, F and Ackley, K and Adams, C and Adams, T and Addesso, P and Adhikari, R. X and Adya, V. B and Affeldt, C and Afrough, M and Agarwal, B and Agathos, M and Agatsuma, K and Aggarwal, N and Aguiar, O. D and Aiello, L and Ain, A and Ajith, P and Allen, B and Allen, G and Allocca, A and Altin, P. A and Amato, A and Ananyeva, A and Anderson, S. B and Anderson, W. G and Angelova, S. V and Antier, S and Appert, S and Arai, K and Araya, M. C and Areeda, J. S and Arnaud, N and Arun, K. G and Ascenzi, S and Ashton, G and Ast, M and Aston, S. M and Astone, P and Atallah, D. V and Aufmuth, P and Aulbert, C and AultONeal, K and Austin, C and Avila-Alvarez, A and Babak, S and Bacon, P and Bader, M. K. M and Bae, S and Baker, P. T and Baldaccini, F and Ballardin, G and Ballmer, S. W and Banagiri, S and Barayoga, J. C and Barclay, S. E and Barish, B. C and Barker, D and Barkett, K and Barone, F and Barr, B and Barsotti, L and Barsuglia, M and Barta, D and Barthelmy, S. D and Bartlett, J and Bartos, I and Bassiri, R and Basti, A and Batch, J. C and Bawaj, M and Bayley, J. C and Bazzan, M and Becsy, B and Beer, C and Bejger, M and Belahcene, I and Bell, A. S and Berger, B. K and Bergmann, G and Bero, J. J and Berry, C. P. L and Bersanetti, D and Bertolini, A and Betzwieser, J and Bhagwat, S and Bhandare, R and Bilenko, I. A and Billingsley, G and Billman, C. R and Birch, J and Birney, R and Birnholtz, O and Biscans, S and Biscoveanu, S and Bisht, A and Bitossi, M and Biwer, C and ...
Astrophysical Journal Letters, ISSN 2041-8205, 10/2017, Volume 848, Issue 2, p. L12
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 314 - 320
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1079 - 1087
Journal Article
Nature Communications, ISSN 2041-1723, 06/2017, Volume 8, Issue 1, p. 15824
Across a variety of Mendelian disorders, similar to 50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing... 
PERRAULT SYNDROME | COMPLEX | SNP | METABOLISM | RANDOM MONOALLELIC EXPRESSION | ORNITHINE | MULTIDISCIPLINARY SCIENCES | DOMINANT | MUTATIONS | ASSOCIATION | TOOL
Journal Article