BCS1L gene mutation causing GRACILE syndrome: Case report

Renal Failure

Volumn 36, Issue 6, 2014, Pages 953-954

  Kasapkara, Çiǧdem Seher ^a   Tümer, Leyla ^a   Ezgü, Fatih Suheyl ^a   Küçükçongar, Aynur ^a   Hasanoǧlu, Alev ^a  

^a GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

Author keywords

Cholestasis; Fanconi type aminoaciduria; Growth retardation; Iron overload; Profound lactic acidosis

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; DICARBOXYLIC ACID; FERRITIN; TRIACYLGLYCEROL; BCS1L PROTEIN, HUMAN; UBIQUINOL CYTOCHROME C REDUCTASE;

AMINOACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BCS1L GENE; CASE REPORT; CHOLESTASIS; DISEASE SEVERITY; ENTERIC FEEDING; EXON; FAILURE TO THRIVE; FAT INTAKE; GENE; GENE MUTATION; GENOTYPE; GRACILE SYNDROME; GROWTH RETARDATION; HOMOZYGOTE; HUMAN; HYPERBILIRUBINEMIA; HYPERTRANSAMINASEMIA; HYPOGLYCEMIA; INFANT; INTRAUTERINE GROWTH RETARDATION; IRON OVERLOAD; JAUNDICE; LACTIC ACIDOSIS; MALE; METABOLIC ACIDOSIS; MICROCEPHALY; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PATENT FORAMEN OVALE; PRIORITY JOURNAL; PROMOTER REGION; TRANSIENT TACHYPNEA OF THE NEWBORN; GENETICS; HEMOSIDEROSIS; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; MITOCHONDRIAL DISEASES;

ACIDOSIS, LACTIC; CHOLESTASIS; ELECTRON TRANSPORT COMPLEX III; FETAL GROWTH RETARDATION; HEMOSIDEROSIS; HUMANS; INFANT; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; RENAL AMINOACIDURIAS;

EID: 84903268873     PISSN: 0886022X     EISSN: 15256049     Source Type: Journal    
DOI: 10.3109/0886022X.2014.900422     Document Type: Article

References (9)

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