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23. Sucrase-isomaltase deficiency. Absence of an inactive enzyme variant. Gray GM; Conklin KA; Townley RR N Engl J Med; 1976 Apr; 294(14):750-3. PubMed ID: 1256470 [TBL] [Abstract][Full Text] [Related]
24. A canine model of human alpha-L-iduronidase deficiency. Spellacy E; Shull RM; Constantopoulos G; Neufeld EF Proc Natl Acad Sci U S A; 1983 Oct; 80(19):6091-5. PubMed ID: 6412235 [TBL] [Abstract][Full Text] [Related]
25. Alpha-L-fucosidase and alpha-D-mannosidase activity in the white blood cells in the disease and carrier state of fucosidosis. Matsuda I; Arashima S; Anakura M; Oka Y Clin Chim Acta; 1973 Sep; 48(1):9-13. PubMed ID: 4746732 [No Abstract] [Full Text] [Related]
27. Variation in neuronal storage in alpha-L-iduronidase deficiency. Wassman ER Am J Med Genet; 1985 Dec; 22(4):827-9. PubMed ID: 3934972 [No Abstract] [Full Text] [Related]
28. Angiokeratoma corporis diffusum with alpha-L-fucosidase deficiency. Epinette WW; Norins AL; Drew AL; Zeman W; Patel V Arch Dermatol; 1973 May; 107(5):754-7. PubMed ID: 4634000 [No Abstract] [Full Text] [Related]
29. Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. Mizumoto S; Kosho T; Hatamochi A; Honda T; Yamaguchi T; Okamoto N; Miyake N; Yamada S; Sugahara K Clin Biochem; 2017 Aug; 50(12):670-677. PubMed ID: 28238810 [TBL] [Abstract][Full Text] [Related]
33. A case of beta-xylosidase deficiency. Payling-Wright CR; Evans PR Lancet; 1970 Jul; 2(7662):43. PubMed ID: 4193777 [No Abstract] [Full Text] [Related]
34. Alcaptonuria and sucrase-isomaltase deficiency in three offspring of a consanguineous marriage. Garnica AD; Cerda JJ; Maenard D; Preiser H; Crane K Acta Vitaminol Enzymol; 1981; 3(3):157-69. PubMed ID: 7347488 [TBL] [Abstract][Full Text] [Related]
35. Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID. Uhrich S; Wu Z; Huang JY; Scott CR J Pediatr Gastroenterol Nutr; 2012 Nov; 55 Suppl 2():S34-5. PubMed ID: 23103650 [No Abstract] [Full Text] [Related]
36. Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome. Delgado Luengo WN; Miranda Contreras LE; Chávez CJ; Solis-Añez E; Cammarata-Scalisi F Invest Clin; 2014 Dec; 55(4):365-70. PubMed ID: 25558755 [TBL] [Abstract][Full Text] [Related]
37. Sucrase-isomaltase deficiency in 2 siblings. O'Halloran ET; Fotrell PF J Ir Med Assoc; 1972 Dec; 65(24):623-5. PubMed ID: 4641860 [No Abstract] [Full Text] [Related]
38. Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Shull RM; Munger RJ; Spellacy E; Hall CW; Constantopoulos G; Neufeld EF Am J Pathol; 1982 Nov; 109(2):244-8. PubMed ID: 6215865 [No Abstract] [Full Text] [Related]
39. Genetic complementation analysis in somatic cell hybrids of alpha-L-iduronidase deficient cells. Wehnert M; Machill G; Petruschka L Hum Genet; 1985; 69(3):287. PubMed ID: 3920140 [No Abstract] [Full Text] [Related]
40. Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb). Völker C; De Praeter CM; Hardt B; Breuer W; Kalz-Füller B; Van Coster RN; Bause E Glycobiology; 2002 Aug; 12(8):473-83. PubMed ID: 12145188 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]