Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

Journal of Inherited Metabolic Disease

Volumn 38, Issue 6, 2015, Pages 1085-1092

  Casey, Jillian P ^a,b   Slattery, Suzanne ^a   Cotter, Melanie ^a   Monavari, A A ^a   Knerr, Ina ^a   Hughes, Joanne ^a   Treacy, Eileen P ^a   Devaney, Deirdre ^a   McDermott, Michael ^c   Laffan, Eoghan ^a   Wong, Derek ^d   Lynch, Sally Ann ^a,b,c   Bourke, Billy ^c   Crushell, Ellen ^a,b,c  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LARS PROTEIN; LEUCINE; PROTEIN; UNCLASSIFIED DRUG; TRANSFER RNA;

ADULT; ANEMIA; ARTICLE; BRAIN DISEASE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIET SUPPLEMENTATION; FAILURE TO THRIVE; FEMALE; FEVER; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HISTORY; HUMAN; HUMAN TISSUE; HYPOALBUMINEMIA; INFANT; INFANTILE LIVER FAILURE SYNDROME TYPE 1; IRISH (CITIZEN); KIDNEY DYSFUNCTION; LIVER DISEASE; LIVER DYSFUNCTION; LIVER FAILURE; LIVER HISTOLOGY; MALE; MEDICAL RECORD REVIEW; METABOLIC DISORDER; PATIENT CARE; PHENOTYPE; PROTEIN INTAKE; PROTEIN RESTRICTION; RECESSIVE GENE; SEIZURE; SYNDROME; TRAVEL; WELLBEING; ADOLESCENT; GENETICS; IRELAND; KIDNEY FAILURE; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PROGNOSIS; YOUNG ADULT;

ADOLESCENT; ADULT; ANEMIA; CHILD; CHILD, PRESCHOOL; FAILURE TO THRIVE; FEMALE; GENES, RECESSIVE; HUMANS; HYPOALBUMINEMIA; INFANT; IRELAND; LIVER FAILURE; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHENOTYPE; PROGNOSIS; RENAL INSUFFICIENCY; RNA, TRANSFER, AMINO ACID-SPECIFIC; SEIZURES; YOUNG ADULT;

EID: 84945475244     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9849-1     Document Type: Article

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