RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164077493
T1 Lysinuric Protein Intolerance
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164077493
RD 2024/04/19
AB It  is  an  autosomal  recessive  disease  characterized  by  defective  transport  of  the  dibasic  amino  acids.  Clinically,  it  is  characterized  by  failure  to  thrive,  poor  growth  during  childhood,  hepatomegaly,  splenomegaly,  lung  involvement,  sparse  hair,  and  muscle  hypotonia.  Patients  affected  present  a  normal  development  to  moderate  mental  retardation.