79. Pseudo-deficiency allele of the N-acetylgalactosamine-4-sulfatase gene identified in a family with Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI) von Sandberg, Sherri, Deanching, Minerva, Hoganson, George, Wenger, David, Whitley, Chester

Volltext

Canine Heparan Sulfate Sulfamidase and the Molecular Pathology Underlying Sanfilippo Syndrome Type A in Dachshunds von Aronovich, Elena L., Carmichael, K.Paige, Morizono, Hiroki, Koutlas, Ioannis G., Deanching, Minerva, Hoganson, George, Fischer, Andrea, Whitley, Chester B.

Volltext

PHENYLALANINE HYDROXYLASE IN HUMAN PLACENTA: NOVEL SYSTEM FOR STUDY OF PHENYLKETONURIA von Matalon, Reuben, Justice, Parvin, Norella Deanching, Minerva

Volltext

THE ENZYMIC BASIS FOR THE PHENOTYPIC VARIATION OF HURLER AND SCHEIE SYNDROMES von Matalon, Reuben, Deanching, Minerva, Rosenthal, Ira M

Volltext

1232 BETA-GLUCURONIDASE DEFICIENCY: A MUCOPOLYSACCHARIDOSIS WITH CHONDROITIN SULFATURIA von Matalon, Reuben, Macias, Ricardo V, Diekamp, Ulrich, Deanching, Minerva, Rosenthal, Ira M

Volltext

879 FRUCTOSE-1.6-DIPHOSPHATASE ACTIVITY IN HUMAN TERM PLACENTA von Matalon, Reuben, Justice, Parvin, Michals, Kimberlee, Deanching, Minerva

Volltext

GLUCOSE-6-PHOSPHATASE ACTIVITY IN HUMAN PLACENTA: POSSIBLE DETECTION OF HETEROZYGOTE FOR GLYCOGEN-STORAGE DISEASE TYPE I von Matalon, Reuben, Michals, Kimberlee, Justice, Parvin, Deanching, MinervaNorella

Volltext

PHENYLALANINE HYDROXYLASE ACTIVITY IN HUMAN TERM PLACENTA von Matalon, Reuben, Deanching, Minerva, Justice, Parvin, Rosenthal, Ira M

Volltext

540 A KERATAN AND HEPARAN SULFATURIA - A NEW MUCOPOLYSAC- CHARIDOSIS WITH N-ACETYLGLUCOSAMINE 6− SULFATASE DEFICIENCY von Matalon, Reuben, Horowitz, Allen, Wappner, Rebecca, Brandt, Ira, Deanching, Minerva, Rosenthal, Ira M

Volltext