Volume 130, Issue 4, Pages 1317-1323 (April 2006) Sustained Engraftment and Tissue Enzyme Activity After Liver Cell Transplantation for Argininosuccinate Lyase Deficiency  Xavier Stéphenne, Mustapha Najimi, Catherine Sibille, Marie–Cécile Nassogne, Françoise Smets, Etienne M. Sokal  Gastroenterology  Volume 130, Issue 4, Pages 1317-1323 (April 2006) DOI: 10.1053/j.gastro.2006.01.008 Copyright © 2006 American Gastroenterological Association Institute Terms and Conditions

Figure 1 This 42-month-old ASL-deficient patient received 11 cell infusions over a period of 5 months (black arrows: cryopreserved cells, red arrows: fresh isolated cells). The ammonia levels summarized 3.5 years before LCT decreased significantly after the infusions. A period of fluctuating ammonia levels was observed during 4 months, but then ammonia levels normalized during the last 6 months of follow-up. Black lines symbolize the different biopsies. Gastroenterology 2006 130, 1317-1323DOI: (10.1053/j.gastro.2006.01.008) Copyright © 2006 American Gastroenterological Association Institute Terms and Conditions

Figure 2 (A and B) FISH Y chromosome on liver cells obtained by biopsy performed 2.5 months post-LCT in the ASL-deficient patient showing 4.7% of XXYY cells. Red: SRY (chromosome Y) and green: DXZ1 (chromosome X-CEP X). (C) Hybridization with centromeric probes specific of autosomes (CEP12, CEP16) of the 2.5-month biopsy fingerprints where XXYY cells were found in significant proportion, confirming the tetraploid status of XXYY cells. Red: CEP12 (chromosome 12) and green: CEP16 (chromosome 16). Gastroenterology 2006 130, 1317-1323DOI: (10.1053/j.gastro.2006.01.008) Copyright © 2006 American Gastroenterological Association Institute Terms and Conditions

Figure 3 (A and B) FISH Y-18 chromosomes on liver cells obtained by biopsy performed 8 months post-LCT in the ASL-deficient patient indicating a significant percentage of 2N XXY, 2N XXYY. Red: SRY (chromosome Y), green: DXZ1 (chromosome X-CEP X), and blue: CEP 18 (chromosome 18). Gastroenterology 2006 130, 1317-1323DOI: (10.1053/j.gastro.2006.01.008) Copyright © 2006 American Gastroenterological Association Institute Terms and Conditions

Figure 4 (A) Albumin (in green) and CK-7 (in red) staining of cell fingerprints from Y-positive biopsies indicating a 95% panel of albumin-positive, CK-7 negative cells (4′,6-diamidino-2-phenylindole nuclei staining in blue). (B) Five percent of cells being albumin negative and CK-7 positive on cell fingerprints from Y-positive biopsies (4′,6-diamidino-2-phenylindole nuclei staining in blue). Gastroenterology 2006 130, 1317-1323DOI: (10.1053/j.gastro.2006.01.008) Copyright © 2006 American Gastroenterological Association Institute Terms and Conditions