198 related articles for article (PubMed ID: 6796310)
1. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).
van de Kamp JJ; Niermeijer MF; von Figura K; Giesberts MA
Clin Genet; 1981 Aug; 20(2):152-60. PubMed ID: 6796310
[TBL] [Abstract][Full Text] [Related]
2. Follow-up on seven adult patients with mild Sanfilippo B-disease.
van Schrojenstein-de Valk HM; van de Kamp JJ
Am J Med Genet; 1987 Sep; 28(1):125-9. PubMed ID: 3118713
[TBL] [Abstract][Full Text] [Related]
3. Sanfilippo disease, type C: three cases in the same family.
Turki I; Kresse H; Scotto J; Tardieu M
Neuropediatrics; 1989 May; 20(2):90-2. PubMed ID: 2500617
[TBL] [Abstract][Full Text] [Related]
4. Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.
Andria G; Di Natale P; Del Giudice E; Strisciuglio P; Murino P
Clin Genet; 1979 Jun; 15(6):500-4. PubMed ID: 157237
[TBL] [Abstract][Full Text] [Related]
5. Sanfilippo type C syndrome in two sisters.
Uvebrant P
Acta Paediatr Scand; 1985 Jan; 74(1):137-9. PubMed ID: 3920864
[TBL] [Abstract][Full Text] [Related]
6. Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships.
van de Kamp JJ; van Pelt JF; Liem KO; Giesberts MA; Niepoth LT; Staalman CR
Clin Genet; 1976 Nov; 10(5):279-84. PubMed ID: 825333
[No Abstract] [Full Text] [Related]
7. [A clinical study of the siblings of Sanfilippo B syndrome (MPS III B)].
Tamagawa K; Nakajima S; Terauchi A; Koide H; Morimatsu Y; Nishiya O; Mimura A
No To Hattatsu; 1983; 15(1):57-66. PubMed ID: 6401424
[No Abstract] [Full Text] [Related]
8. Sanfilippo B syndrome (MPS III B): altered residual alpha-N-acetylglucosaminidase activity in an unusual sibship.
Di Natale P; Murino P; Pontarelli G; Salvatore D; Andria G
Clin Chim Acta; 1982 Jul; 122(2):135-43. PubMed ID: 6809360
[TBL] [Abstract][Full Text] [Related]
9. Sanfilippo A syndrome in the fetus.
Greenwood RS; Hillman RE; Alcala H; Sly WS
Clin Genet; 1978 Mar; 13(3):241-50. PubMed ID: 147760
[TBL] [Abstract][Full Text] [Related]
10. Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.
McDowell GA; Cowan TM; Blitzer MG; Greene CL
Am J Med Genet; 1993 Nov; 47(7):1092-5. PubMed ID: 7507293
[TBL] [Abstract][Full Text] [Related]
11. Sanfilippo B disease in two related sibships. Biochemical studies in patients, parents and sibs.
Liem KO; Giesberts MA; van de Kamp JJ; van Pelt JF; Hooghwinkel GJ
Clin Genet; 1976 Nov; 10(5):273-8. PubMed ID: 825332
[TBL] [Abstract][Full Text] [Related]
12. Carrier detection for Sanfilippo A syndrome.
Matalon R; Deanching M; Marback R; Michals K
J Inherit Metab Dis; 1988; 11(2):158-60. PubMed ID: 3139927
[TBL] [Abstract][Full Text] [Related]
13. Mortality in patients with Sanfilippo syndrome.
Lavery C; Hendriksz CJ; Jones SA
Orphanet J Rare Dis; 2017 Oct; 12(1):168. PubMed ID: 29061114
[TBL] [Abstract][Full Text] [Related]
14. Carrier detection in Sanfilippo A syndrome.
Toone JR; Applegarth DA
Clin Genet; 1988 Jun; 33(6):401-3. PubMed ID: 3139339
[TBL] [Abstract][Full Text] [Related]
15. Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
Emre S; Terzioglu M; Tokatli A; Coskun T; Ozalp I; Weber B; Hopwood JJ
Hum Mutat; 2002 Feb; 19(2):184-5. PubMed ID: 11793481
[TBL] [Abstract][Full Text] [Related]
16. Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree.
Sewell AC; Pontz BF; Benischek G
Clin Genet; 1988 Aug; 34(2):116-21. PubMed ID: 3142713
[TBL] [Abstract][Full Text] [Related]
17. Sanfilippo B disease in two related sibships. Biochemical studies in patients and sibs.
Liem KO; Hooghwinkel GJ
Monogr Hum Genet; 1978; 10():11-5. PubMed ID: 102922
[No Abstract] [Full Text] [Related]
18. Intrafamilial variability in lysosomal storage diseases.
Zlotogora J
Am J Med Genet; 1987 Jul; 27(3):633-8. PubMed ID: 3115101
[TBL] [Abstract][Full Text] [Related]
19. Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III.
Gatti R; Borrone C; Durand P; De Virgilis S; Sanna G; Cao A; von Figura K; Kresse H; Paschke E
Eur J Pediatr; 1982 Mar; 138(2):168-71. PubMed ID: 6807676
[No Abstract] [Full Text] [Related]
20. Carrier detection in Sanfilippo syndrome type B: report of six families.
Vance JM; Conneally PM; Wappner RS; Yu PL; Brandt IK; Pericak-Vance MA
Clin Genet; 1981 Aug; 20(2):135-40. PubMed ID: 6796309
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
