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Items: 1 to 20 of 89

1.

Aspartylglucosaminuria: unique biochemical and ultrastructural characteristics.

Isenberg JN, Sharp HL.

Hum Pathol. 1976 Jul;7(4):469-81.

PMID:
939543
2.
3.

Progressive nature of aspartylglucosaminuria.

Arvio P, Arvio M.

Acta Paediatr. 2002;91(3):255-7. Review.

PMID:
12022293
4.

Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder.

Chitayat D, Nakagawa S, Marion RW, Sachs GS, Hahm SY, Goldman HS.

Am J Med Genet. 1988 Nov;31(3):527-32.

PMID:
3228136
5.
6.

Aspartylglucosaminuria in the United States.

Hreidarsson S, Thomas GH, Valle DL, Stevenson RE, Taylor H, McCarty J, Coker SB, Green WR.

Clin Genet. 1983 Jun;23(6):427-35.

PMID:
6883788
7.

Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.

Gehler J, Sewell AC, Becker C, Spranger J, Hartmann J.

J Inherit Metab Dis. 1981;4(4):229-30.

PMID:
6796777
8.

[Aspartylglucosaminuria].

Palo J, Autio S.

Duodecim. 1972;88(1):24-9. Finnish. No abstract available.

PMID:
5013572
9.

Finger clubbing and aspartylglucosamine excretion in a laxative-abusing patient.

Malmquist J, Ericsson B, Hultén-Nosslin MB, Jeppsson JO, Ljungberg O.

Postgrad Med J. 1980 Dec;56(662):862-4.

10.

A fluorometric assay for glycosylasparaginase activity and detection of aspartylglycosaminuria.

Mononen IT, Kaartinen VM, Williams JC.

Anal Biochem. 1993 Feb 1;208(2):372-4.

PMID:
8452235
11.

Aspartylglucosaminuria among Palestinian Arabs.

Zlotogora J, Ben-Neriah Z, Abu-Libdeh BY, Sury V, Zeigler M.

J Inherit Metab Dis. 1997 Nov;20(6):799-802.

PMID:
9427148
12.

Dysmorphic facial features in aspartylglucosaminuria patients and carriers.

Arvio MA, Peippo MM, Arvio PJ, Kääriäinen HA.

Clin Dysmorphol. 2004 Jan;13(1):11-5.

PMID:
15127757
13.

Aspartylglucosaminuria: deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents.

Aula P, Näntö V, Laipio ML, Autio S.

Clin Genet. 1973;4(3):297-300. No abstract available.

PMID:
4765214
14.

Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation.

Laine M, Richter J, Fahlman C, Rapola J, Renlund M, Peltonen L, Karlsson S, Jalanko A.

Exp Hematol. 1999 Sep;27(9):1467-74.

PMID:
10480438
15.

Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland.

Aula P, Renlund M, Raivio KO, Koskela SL.

J Ment Defic Res. 1986 Dec;30 ( Pt 4):365-8.

PMID:
3806663
16.

A prolidase deficiency in man with iminopeptiduria.

Powell GF, Rasco MA, Maniscalco RM.

Metabolism. 1974 Jun;23(6):505-13. No abstract available.

PMID:
4828441
17.

Prenatal diagnosis and fetal pathology of aspartylglucosaminuria.

Aula P, Rapola J, von Koskull H, Ammälä P.

Am J Med Genet. 1984 Oct;19(2):359-67.

PMID:
6507482
18.

[Aspartylglucosaminuria. Clinical description of 2 German patients].

Ziegler R, Schmidt H, Sewell AC, Weglage J, von Lengerke JH, Ullrich K.

Monatsschr Kinderheilkd. 1989 Aug;137(8):454-7. German.

PMID:
2811876
19.

Farber disease: pathologic diagnosis in sibs with phenotypic variability.

Qualman SJ, Moser HW, Valle D, Moser AE, Antonarakis SE, Boitnott JK, Zinkham WH.

Am J Med Genet Suppl. 1987;3:233-41.

PMID:
3130860
20.

An autopsy case of I-cell disease. Ultrastructural and biochemical analyses.

Kitagawa H, Toki J, Morimoto T, Okumura T, Saitoh K, Higashino H, Horii T, Kobayashi Y, Ikehara S.

Am J Clin Pathol. 1991 Aug;96(2):262-6.

PMID:
1862781

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