TRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy

European Journal of Human Genetics

Volumn 25, Issue 5, 2017, Pages 545-551

  Edvardson, Simon ^a   Prunetti, Laurence ^b   Arraf, Aiman ^c   Haas, Drago ^b   Bacusmo, Jo Marie ^b   Hu, Jennifer F ^d   Ta Shma, Asas ^a   Dedon, Peter C ^d,e   De Crécy Lagard, Valérie ^b   Elpeleg, Orly ^a  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b UNIVERSITY OF FLORIDA   (United States)

^c HEBREW UNIVERSITY   (Israel)

^d Massachusetts Institute of Technology   (United States)

^e SINGAPORE MIT ALLIANCE FOR RESEARCH AND TECHNOLOGY   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; CARBAMOYLTRANSFERASE; CORTICOTROPIN; ESMOLOL; HYDRALAZINE; HYDROCORTISONE; KAE1 PROTEIN; MAGNESIUM; N6 ADENOSINE THREONYLCARBAMOYLTRANSFERASE; PARATHYROID HORMONE; PROPRANOLOL; PROTEINASE; RENIN; TRANSFER RNA; UNCLASSIFIED DRUG; ADENOSINE; ERYTHROCYTE BAND 3 PROTEIN; N(6)-(N-THREONYLCARBONYL)ADENOSINE; SLC4A1 PROTEIN, HUMAN;

ALDOSTERONE BLOOD LEVEL; ALLELE; AORTA COARCTATION; ARAB; ARACHNODACTYLY; ARTICLE; CASE REPORT; CATALYSIS; CEREBELLUM ATROPHY; CHILD; COLOBOMA; CONSANGUINEOUS MARRIAGE; CORTICOTROPIN BLOOD LEVEL; CREATININE CLEARANCE; CRYPTORCHISM; CYTOSOL; DEVELOPMENTAL DISORDER; DOWNWARD PALPEBRAL SLANT; DYSPHAGIA; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; FIRST-DEGREE RELATIVE; FRONTAL BOSSING; FUNNEL CHEST; HIGH ARCHED PALATE; HOMOZYGOSITY; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERCALCIURIA; HYPERTENSIVE CRISIS; HYPOCALCEMIA; HYPOMAGNESEMIA; ICHTHYOSIS; KARYOTYPE 46,XX; KIDNEY TUBULE DISORDER; KYPHOSIS; LEUKODYSTROPHY; LIQUID CHROMATOGRAPHY-MASS SPECTROMETRY; MAGNESIUM BLOOD LEVEL; MAGNESIUM URINE LEVEL; MALE; MICROCEPHALY; MICROPHTHALMIA; MINERAL SUPPLEMENTATION; MOLECULAR DIAGNOSIS; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NERVE DEGENERATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PARATHYROID HORMONE BLOOD LEVEL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; PTOSIS; PYLORUS STENOSIS; STRABISMUS; TACHYCARDIA; TACHYPNEA; WHOLE EXOME SEQUENCING; ANALOGS AND DERIVATIVES; DEVELOPMENTAL DISABILITIES; EXOME; GENETIC COMPLEMENTATION; GENETICS; HOMOZYGOTE; KIDNEY DISEASES; METABOLISM; METABOLISM, INBORN ERRORS; MUTATION; RNA PROCESSING; SACCHAROMYCES CEREVISIAE; SYNDROME;

ADENOSINE; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; CHILD; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; GENETIC COMPLEMENTATION TEST; HOMOZYGOTE; HUMANS; KIDNEY DISEASES; MAGNESIUM; MALE; METABOLISM, INBORN ERRORS; MUTATION; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, TRANSFER; SACCHAROMYCES CEREVISIAE; SYNDROME;

EID: 85014677350     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2017.30     Document Type: Article

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