Clinical and biochemical features associated with BCS1L mutation

Journal of Inherited Metabolic Disease

Volumn 36, Issue 5, 2013, Pages 813-820

  Al Owain, Mohammed ^a,b   Colak, Dilek ^a   Albakheet, Albandary ^a   Al Younes, Banan ^a   Al Humaidi, Zainab ^a   Al Sayed, Moeen ^a   Al Hindi, Hindi ^c   Al Sugair, Abdulaziz ^d   Al Muhaideb, Ahmed ^a   Rahbeeni, Zuhair ^a   Al Sehli, Abdullah ^a   Al Fadhli, Fatima ^e   Ozand, Pinar T ^f   Taylor, Robert W ^g   Kaya, Namik ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c Laboratory Medicine   (Saudi Arabia)

^d King Fahad Heart Institute   (Saudi Arabia)

^e King Salman Bin Abdulaziz Medical City   (Saudi Arabia)

^f YILDIZ TECHNICAL UNIVERSITY   (Turkey)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYBUTYRIC ACID; 2 HYDROXYISOVALERIC ACID; 2 OXOGLUTARIC ACID; ADENINE; ADENOSINE TRIPHOSPHATASE; ARGININE; CITRATE SYNTHASE; CREATINE KINASE; CYTOCHROME C OXIDASE; FLUORODEOXYGLUCOSE F 18; GLYCINE; GUANINE; LACTIC ACID; OLANZAPINE; PYRUVIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ANXIETY; ARTICLE; ATTENTION DEFICIT DISORDER; AUDITORY HALLUCINATION; BCS1L GENE; BEHAVIOR DISORDER; CHILD; CHROMOSOME 2Q; CLINICAL ARTICLE; COGNITIVE DEFECT; CONSANGUINEOUS MARRIAGE; CREATINE KINASE BLOOD LEVEL; DEPRESSION; DIFFERENTIAL DIAGNOSIS; DIFFUSION TENSOR IMAGING; DISEASE SEVERITY; DNA SEQUENCE; EMOTIONAL DISORDER; ENZYME ACTIVITY; EVOKED VISUAL RESPONSE; FEMALE; GENE; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERPHAGIA; HYPERTROPHIC CARDIOMYOPATHY; HYPOGLYCEMIA; HYPOMANIA; INSOMNIA; INSULIN DEPENDENT DIABETES MELLITUS; INTELLIGENCE QUOTIENT; KIDNEY FAILURE; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; LIPID STORAGE; MALE; MASS FRAGMENTOGRAPHY; MENTAL DISEASE; METABOLIC ACIDOSIS; METABOLIC ENCEPHALOPATHY; MICROSATELLITE MARKER; MITOCHONDRIAL GENOME; MITOCHONDRIAL RESPIRATION; MUSCLE BIOPSY; MUSCLE CELL; MUTATIONAL ANALYSIS; NYSTAGMUS; PARANOIA; PERCEPTION DEAFNESS; PERSISTENT VEGETATIVE STATE; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PROMOTER REGION; PSYCHOLOGIC TEST; RESTLESSNESS; RHABDOMYOLYSIS; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOCIAL ISOLATION; SPEECH DISORDER; THOUGHT DISORDER; TRANSMISSION ELECTRON MICROSCOPY; URINALYSIS; VISUAL ACUITY; VISUAL HALLUCINATION; VISUAL IMPAIRMENT;

ACIDOSIS, LACTIC; ADOLESCENT; ADULT; CHILD; CHOLESTASIS; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX III; FEMALE; FETAL GROWTH RETARDATION; GENETIC PREDISPOSITION TO DISEASE; HAIR DISEASES; HEARING LOSS, SENSORINEURAL; HEMOSIDEROSIS; HOMOZYGOTE; HUMANS; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MUTATION; PHENOTYPE; RENAL AMINOACIDURIAS;

EID: 84884351907     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9536-4     Document Type: Article

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