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Items: 1 to 20 of 106

1.

Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion.

Sewell AC, Wern C, Pontz BF.

Clin Genet. 1991 Oct;40(4):312-7.

PMID:
1836753
2.
3.

A case of brachyolmia.

Karabiyik N, Oğuz F, Sidal M, Hekim N, Kayserili H.

Turk J Pediatr. 1997 Jul-Sep;39(3):415-20.

PMID:
9339123
4.

The laboratory diagnosis of Sanfilippo disease.

Whiteman P, Young E.

Clin Chim Acta. 1977 Apr 1;76(1):139-47.

PMID:
404099
5.

[Dysplasia metaphysaria, type Vaandrager-Pena].

Kozlowski K, Sikorska B.

Z Kinderheilkd. 1970;108(2):165-70. German. No abstract available.

PMID:
4252977
7.

The effect of dextran infusions on glycosaminoglycan excretion in the Sanfilippo syndrome.

Dean MF, Benson PF, Muir H.

Dev Med Child Neurol. 1975 Feb;17(1):47-51.

PMID:
123516
8.

Chondrodystrophy-mucopolysaccharidosis disparity.

Milicic M, Peterson HA.

Clin Orthop Relat Res. 1971 Oct;80:92-104. No abstract available.

PMID:
4257268
10.

Urinary glycosaminoglycans in patients with hypothyroidism and in healthy subjects.

Wład H, Fenrych W, Lacka K, Sikorska-Horst W.

J Clin Chem Clin Biochem. 1988 May;26(5):259-64.

PMID:
3136224
11.

Skeletal abnormalities in the Kniest syndrome with mucopolysacchariduria.

Brill PW, Kim HJ, Beratis NG, Hirschhorn K.

Am J Roentgenol Radium Ther Nucl Med. 1975 Nov;125(3):731-8.

PMID:
128300
12.

Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases.

Coppa GV, Giorgi PL, Felici L, Gabrielli O, Donti E, Bernasconi S, Kresse H, Paschke E, Mastropaolo C.

Eur J Pediatr. 1983 Apr;140(2):130-3.

PMID:
6411475
13.

Keratan sulphate excretion in a patient with Kniest dysplasia.

Pennock CA, Gordon IR, Longdon K, Burman D.

J Inherit Metab Dis. 1980;2(3):75-8.

PMID:
6458738
14.

N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID).

Thompson JN, Jones MZ, Dawson G, Huffman PS.

J Inherit Metab Dis. 1992;15(5):760-8.

PMID:
1434515
15.

Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia).

Mour ao PA, Toledo SP, Nader HB, Dietrich CP.

Biochem Med. 1973 Jun;7(3):415-23. No abstract available.

PMID:
4268486
16.

Chondroitin 4- and 6-sulfaturia: a new type of inborn error of metabolism?

Hayashi S, Kimura A, Hoshino R, Takahashi K, Tsurumi K.

Tohoku J Exp Med. 1979 Apr;127(4):327-38.

18.

[Urinary glycosaminoglycans in peptic ulcer, chronic gastritis, and normal subjects].

Rabinovich PD, Gerasimovich AI.

Vopr Med Khim. 1980 Jul-Aug;26(4):545-8. Russian.

PMID:
6779420
19.

Chemical definition of the mucopolysaccharidoses.

Constantopoulos G, Dekaban AS.

Clin Chim Acta. 1975 Mar 24;59(3):321-36.

PMID:
123832
20.

Urinary chondroitin sulfates, heparan sulfate and total sulfated glycosaminoglycans in interstitial cystitis.

Erickson DR, Ordille S, Martin A, Bhavanandan VP.

J Urol. 1997 Jan;157(1):61-4.

PMID:
8976216

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