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Similar articles for PubMed (Select 6788730)

1.

Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.

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

Helv Paediatr Acta. 1981;36(2):179-89.

PMID:
6788730
2.

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
3.

Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.

Borud O, Strömme JH, Lie SO, Torp KH.

J Inherit Metab Dis. 1978;1(3):95-7.

PMID:
116085
4.
5.

N-Acetylglucosamine-asparagine levels in tissues of patients with aspartylglycosaminuria.

Maury CP, Palo J.

Clin Chim Acta. 1980 Dec 8;108(2):293-9.

PMID:
7449147
6.

Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded Sicilian child.

Musumeci S, Salvati A, Schiliró G, Salvo G, Di Dio R, Caprari P.

Am J Med Genet. 1984 Dec;19(4):643-50.

PMID:
6517093
7.

Automated ion-exchange chromatography in the detection of aspartylglucosaminuria.

Marnela KM.

J Chromatogr. 1980 Jun 13;182(3-4):409-13. No abstract available.

PMID:
7391183
8.

Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.

Vargas-Díez E, Chabás A, Coll MJ, Sánchez-Pérez J, García-Díez A, Fernández-Herrera JM.

Br J Dermatol. 2002 Oct;147(4):760-4. Review.

PMID:
12366426
9.

[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
10.

Aspartylglycosaminuria, urinary excretion of aspartylglycosamines related to mental retardation.

Borud O, Torp KH, Dahl T.

Monogr Hum Genet. 1978;10:23-6. No abstract available.

PMID:
723900
11.

Two Japanese cases with aspartylglycosaminuria: clinical and morphological features.

Yoshida K, Ikeda S, Yanagisawa N, Yamauchi T, Tsuji S, Hirabayashi Y.

Clin Genet. 1991 Oct;40(4):318-25.

PMID:
1756604
12.

Aspartylglucosamine excretion in heterozygous carriers of aspartylglycosaminuria.

Mononen TK.

Clin Chim Acta. 1989 Mar 15;180(1):99-101. No abstract available.

PMID:
2743573
13.

Liquid-chromatographic detection of aspartylglycosaminuria.

Mononen T, Parviainen M, Penttilä I, Mononen I.

Clin Chem. 1986 Mar;32(3):501-2.

14.
15.

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
16.

Disturbed metabolism of copper and zinc in aspartylglycosaminuria: possible involvement with connective tissue changes.

Näntö-Salonen K, Halme T, Penttinen R, Langevelde FV, Vis RD, Alfthan G.

J Inherit Metab Dis. 1985;8(4):212-8.

PMID:
3939546
17.

Abnormal dermal proteoglycan in aspartylglycosaminuria: a possible mechanism for ultrastructural changes of collagen fibrils in a glycoprotein storage disorder.

Näntö-Salonen K, Larjava H, Säämanen AM, Heino J, Penttinen R, Pelliniemi LJ, Tammi M.

Connect Tissue Res. 1987;16(4):367-76.

PMID:
3132350
18.

Aspartylglucosaminuria in a Canadian family.

Gordon BA, Rupar CA, Rip JW, Haust MD, Coulter-Mackie MB, Scott E, Hinton GG.

Clin Invest Med. 1998 Jun;21(3):114-23.

PMID:
9627765
19.

Urinary sialic acid levels in aspartylglycosaminuria.

Maury CP.

Clin Chim Acta. 1981 Jan 22;109(2):219-23.

PMID:
7471497
20.

[Skeletal changes in 2 German children with aspartylglycosaminuria].

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

Rofo. 1988 Aug;149(2):143-6. German.

PMID:
2842830
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