A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

American Journal of Human Genetics

Volumn 95, Issue 5, 2014, Pages 602-610

  Buchert, Rebecca ^a   Tawamie, Hasan ^a   Smith, Christopher ^b   Uebe, Steffen ^a   Innes, A Micheil ^b   Al Hallak, Bassam ^c   Ekici, Arif B ^a   Sticht, Heinrich ^a   Schwarze, Bernd ^a   Lamont, Ryan E ^b   Parboosingh, Jillian S ^b   Bernier, Francois P ^b   Abou Jamra, Rami ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY OF CALGARY   (Canada)

^c NONE   (Syrian Arab Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; FATTY ALCOHOL; PLASMALOGEN; ALDEHYDE DEHYDROGENASE; HEXADECANAL DEHYDROGENASE (ACYLATING); LIPID;

ADULT; AMINO ACID SEQUENCE; ARTICLE; BIOSYNTHESIS; BIRTH WEIGHT; CHILD; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL CATARACT; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPSY; ERYTHROCYTE; EXOME; FACILITATED COMMUNICATION; FATTY ACYL COENZYME A REDUCTASE 1 DEFICIENCY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MAPPING; GENETIC ASSOCIATION; GENOTYPE; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HUMAN; INDEL MUTATION; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MALE; MASS FRAGMENTOGRAPHY; MICROCEPHALY; NEUROIMAGING; NEXT GENERATION SEQUENCING; NONSENSE MEDIATED MRNA DECAY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGIST; PATHOGENICITY; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; SYRIAN; VERTEBRAL CANAL STENOSIS; YOUNG ADULT; CASE REPORT; CATARACT; CHEMICAL STRUCTURE; CHEMISTRY; DEFICIENCY; DNA SEQUENCE; GAS CHROMATOGRAPHY; GENETICS; HEK293 CELL LINE; MASS SPECTROMETRY; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; NUTRITIONAL DEFICIENCY; PATHOLOGY; PEDIGREE; SYNDROME;

ABNORMALITIES, MULTIPLE; ALDEHYDE OXIDOREDUCTASES; BASE SEQUENCE; CATARACT; CHROMATOGRAPHY, GAS; DEFICIENCY DISEASES; EPILEPSY; FEMALE; GENOTYPE; HEK293 CELLS; HUMANS; INDEL MUTATION; INTELLECTUAL DISABILITY; LIPIDS; MAGNETIC RESONANCE IMAGING; MALE; MASS SPECTROMETRY; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PEDIGREE; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 84922334589     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.10.003     Document Type: Article

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