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1. Full Text Creatine biosynthesis and transport in health and disease
by Joncquel-Chevalier Curt, Marie and Voicu, Pia-Manuela and Fontaine, Monique and Dessein, Anne-Frédérique and Porchet, Nicole and Mention-Mulliez, Karine and Dobbelaere, Dries and Soto-Ares, Gustavo and Cheillan, David and Vamecq, Joseph
Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Index Medicus | Life Sciences
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2. Full Text Molecular and clinical spectra of FBXL4 deficiency
by El‐Hattab, Ayman W and Dai, Hongzheng and Almannai, Mohammed and Wang, Julia and Faqeih, Eissa A and Al Asmari, Ali and Saleh, Mohammed A. M and Elamin, Mohammed A. O and Alfadhel, Majid and Alkuraya, Fowzan S and Hashem, Mais and Aldosary, Mazhor S and Almass, Rawan and Almutairi, Faten B and Alsagob, Maysoon and Al‐Owain, Mohammed and Al‐Sharfa, Shirin and Al‐Hassnan, Zuhair N and Rahbeeni, Zuhair and Al‐Muhaizea, Mohammed A and Makhseed, Nawal and Foskett, Gretchen K and Stevenson, David A and Gomez‐Ospina, Natalia and Lee, Chung and Boles, Richard G and Schrier Vergano, Samantha A and Wortmann, Saskia B and Sperl, Wolfgang and Opladen, Thomas and Hoffmann, Georg F and Hempel, Maja and Prokisch, Holger and Alhaddad, Bader and Mayr, Johannes A and Chan, Wenyaw and Kaya, Namik and Wong, Lee‐Jun C
Human mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1649 - 1659
mitochondrial diseases | mitochondrial DNA maintenance | mtDNA | FBXL4 | mitochondrial DNA depletion | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | Proteome - genetics | Muscle Hypotonia - genetics | Genetic Association Studies | Acidosis, Lactic - genetics | Humans | Mitochondrial Encephalomyopathies - genetics | Kaplan-Meier Estimate | Oxidative Phosphorylation | Mitochondrial Proteins - genetics | Mitochondrial Encephalomyopathies - pathology | DNA, Mitochondrial - genetics | Mitochondria - genetics | Mitochondrial Encephalomyopathies - epidemiology | Mutation | Ubiquitin-Protein Ligases - genetics | F-Box Proteins - genetics | Genes | Mitochondrial DNA | Seizures (Medicine) | Neuroimaging | Genetic disorders | Cardiomyopathy | Liver | Hyperammonemia | Leucine | Substantia alba | Atrophy | Proteins | Microencephaly | Electron transport | Seizures | Structure-function relationships | Index Medicus
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3. Full Text Carnitine Inborn Errors of Metabolism
by Almannai, Mohammed and Alfadhel, Majid and El-Hattab, Ayman W
Molecules (Basel, Switzerland), ISSN 1420-3049, 09/2019, Volume 24, Issue 18, p. 3251
Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Solute Carrier Family 22 Member 5 - genetics | Hyperammonemia - genetics | Mitochondria - enzymology | Carnitine O-Palmitoyltransferase - genetics | Hyperammonemia - metabolism | Oxidation-Reduction | Muscular Diseases - metabolism | Humans | gamma-Butyrobetaine Dioxygenase - genetics | Carnitine - metabolism | Aldehyde Oxidoreductases - genetics | Metabolism, Inborn Errors - genetics | Cardiomyopathies - genetics | Carnitine - biosynthesis | Carnitine - deficiency | Mitochondria - genetics | Cardiomyopathies - metabolism | Muscular Diseases - genetics | Mixed Function Oxygenases - genetics | Carnitine - genetics | Carnitine Acyltransferases - genetics | Index Medicus | carnitine | carnitine palmitoyltransferase | Review | trimethyllysine (TML) dioxygenase | carnitine transporter
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4. Full Text Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal‐Onset Recurrent Metabolic Decompensation
by Miyake, Noriko and Yano, Shoji and Sakai, Chika and Hatakeyama, Hideyuki and Matsushima, Yuichi and Shiina, Masaaki and Watanabe, Yoriko and Bartley, James and Abdenur, Jose E and Wang, Raymond Y and Chang, Richard and Tsurusaki, Yoshinori and Doi, Hiroshi and Nakashima, Mitsuko and Saitsu, Hirotomo and Ogata, Kazuhiro and Goto, Yu‐ichi and Matsumoto, Naomichi
Human mutation, ISSN 1059-7794, 03/2013, Volume 34, Issue 3, pp. 446 - 452
UQCRC2 | supercomplex | mitochondrial complex III (CIII) | whole exome sequence | Whole exome sequence | Supercomplex | Mitochondrial complex III (CIII) | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hypoglycemia - genetics | Mitochondrial Diseases - genetics | Hyperammonemia - genetics | ATPases Associated with Diverse Cellular Activities | Electron Transport Complex III - genetics | Ketosis - genetics | Membrane Proteins - genetics | Acidosis, Lactic - genetics | Humans | Male | Mitochondrial Proteins - genetics | Mutation, Missense | Sequence Analysis, DNA | Blotting, Western | Exome | Homozygote | Mitochondria - genetics | Pedigree | Adult | Female | Protein Conformation | Electron Transport Complex III - deficiency | Mitochondrial Diseases - diagnosis | Genetic Linkage | Cytochrome c | Infants (Newborn) | Genetic aspects | Cytochrome b | Analysis | Genes | Proteins | Mutation | Index Medicus
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5. Full Text Functional and molecular studies in primary carnitine deficiency
by Frigeni, Marta and Balakrishnan, Bijina and Yin, Xue and Calderon, Fernanda R.O and Mao, Rong and Pasquali, Marzia and Longo, Nicola
Human mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1684 - 1699
mutations | SLC22A5 | carnitine uptake defect | carnitine deficiency | fatty acid oxidation | carnitine transport | OCTN2 | newborn screening | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Solute Carrier Family 22 Member 5 - metabolism | Cricetulus | Humans | Carnitine - metabolism | Mutation, Missense | Genetic Variation | Cardiomyopathies - genetics | Biological Transport | Carnitine - deficiency | DNA Mutational Analysis | Cardiomyopathies - diagnosis | Carnitine - genetics | CHO Cells | Fibroblasts - metabolism | Hyperammonemia - diagnosis | Hypoglycemia - diagnosis | Hypoglycemia - genetics | Solute Carrier Family 22 Member 5 - genetics | Hyperammonemia - genetics | Cricetinae | Gene Frequency | Exons - genetics | Muscular Diseases - diagnosis | Animals | Muscular Diseases - genetics | Mutation | Amino Acid Substitution | Algorithms | Fatty acids | Population genetics | Analysis | Carnitine | Cardiomyopathy | Exons | Alleles | Fibroblasts | Amino acids | Children | Hypoglycemia | Index Medicus
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6. Full Text Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype
by Shibbani, K and Fahed, A.C and Al‐Shaar, L and Arabi, M and Nemer, G and Bitar, F and Majdalani, M
Clinical genetics, ISSN 0009-9163, 02/2014, Volume 85, Issue 2, pp. 127 - 137
primary carnitinte deficiency | SLC22A5 | heart | dilated cardiomyopathy | Heart | Dilated cardiomyopathy | Primary carnitinte deficiency | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cardiomyopathy, Dilated - pathology | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | DNA Primers - genetics | Hyperammonemia - pathology | Cardiomyopathies - genetics | Solute Carrier Family 22 Member 5 | Carnitine - deficiency | Base Sequence | Polymerase Chain Reaction | Female | Odds Ratio | Carnitine - genetics | Child | Cardiomyopathy, Dilated - genetics | Hyperammonemia - genetics | Echocardiography | Cardiomyopathies - pathology | Logistic Models | Myocardium - pathology | Muscular Diseases - pathology | Sequence Analysis, DNA | Lebanon | Phenotype | Pedigree | Muscular Diseases - genetics | Organic Cation Transport Proteins - genetics | Codon, Nonsense - genetics | Sequence Deletion - genetics | Fatty acids | Genetic aspects | Carnitine | Studies | Cardiovascular system | Genetic research | Genotype & phenotype | Genetic disorders | Mutagenesis | Index Medicus
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7. Full Text Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort
by Faletra, Flavio and Athanasakis, Emmanouil and Morgan, Anna and Biarnés, Xevi and Fornasier, Federico and Parini, Rossella and Furlan, Francesca and Boiani, Arianna and Maiorana, Arianna and Dionisi-Vici, Carlo and Giordano, Laura and Burlina, Alberto and Ventura, Alessandro and Gasparini, Paolo
Gene, ISSN 0378-1119, 05/2013, Volume 521, Issue 1, pp. 160 - 165
Italy | Mutation | KCNJ11 | Congenital hyperinsulinism | ABCC8 | Hyperammonemia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hyperammonemia - genetics | Receptors, Drug - genetics | Humans | Protein-Serine-Threonine Kinases - genetics | Infant | Male | Potassium Channels, Inwardly Rectifying - genetics | Hepatocyte Nuclear Factor 4 - genetics | Mitochondrial Proteins - genetics | Sulfonylurea Receptors | Glutamate Dehydrogenase - genetics | Congenital Hyperinsulinism - genetics | ATP-Binding Cassette Transporters - genetics | Computer Simulation | Female | Sirtuins - genetics | Cohort Studies | Development and progression | Genetic disorders | Index Medicus
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