This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

. 1962 Oct;37(195):525-34.

doi: 10.1136/adc.37.195.525.

Morquio-Ullrich's Disease: An Inborn Error of Metabolism?

H V Dyggve, J C Melchior, J Clausen

PMID: 21032395
PMCID: PMC2012915
DOI: 10.1136/adc.37.195.525

Morquio-Ullrich's Disease: An Inborn Error of Metabolism?

H V Dyggve et al. Arch Dis Child. 1962 Oct.

. 1962 Oct;37(195):525-34.

doi: 10.1136/adc.37.195.525.

Authors

H V Dyggve, J C Melchior, J Clausen

PMID: 21032395
PMCID: PMC2012915
DOI: 10.1136/adc.37.195.525

No abstract available

PubMed Disclaimer

Similar articles

Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency.
Higashi K, Higuchi I, Niiyama T, Uchida Y, Shiraishi T, Hashiguchi A, Saito A, Horikiri T, Suehara M, Arimura K, Osame M. Higashi K, et al. Muscle Nerve. 2006 Jan;33(1):120-6. doi: 10.1002/mus.20449. Muscle Nerve. 2006. PMID: 16258947
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].
Higuchi I. Higuchi I. Rinsho Shinkeigaku. 2005 Nov;45(11):935-7. Rinsho Shinkeigaku. 2005. PMID: 16447767 Japanese.
Pathological characteristics of skeletal muscle in Ullrich's disease with collagen VI deficiency.
Higuchi I, Horikiri T, Niiyama T, Suehara M, Shiraishi T, Hu J, Uchida Y, Saito A, Nakagawa M, Arimura K, Osame M. Higuchi I, et al. Neuromuscul Disord. 2003 May;13(4):310-6. doi: 10.1016/s0960-8966(02)00282-1. Neuromuscul Disord. 2003. PMID: 12868500
Ullrich's congenital atonic sclerotic muscular dystrophy. A case report.
De Paillette L, Aicardi J, Goutières F. De Paillette L, et al. J Neurol. 1989 Feb;236(2):108-10. doi: 10.1007/BF00314406. J Neurol. 1989. PMID: 2651568 Review.
The roentgenographic features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford's disease).
Langer LO Jr, Carey LS. Langer LO Jr, et al. Am J Roentgenol Radium Ther Nucl Med. 1966 May;97(1):1-20. doi: 10.2214/ajr.97.1.1. Am J Roentgenol Radium Ther Nucl Med. 1966. PMID: 4223084 Review. No abstract available.

See all similar articles

Cited by

Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine.
Roesel RA, Carroll JE, Rizzo WB, van der Zalm T, Hahn DA. Roesel RA, et al. J Inherit Metab Dis. 1991;14(6):876-80. doi: 10.1007/BF01800466. J Inherit Metab Dis. 1991. PMID: 1779646
Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report.
Yadav AK, Wadia F, Gawhale S, Panchal S, Talukder P, Mokashi M. Yadav AK, et al. J Orthop Case Rep. 2021 Aug;11(8):84-86. doi: 10.13107/jocr.2021.v11.i08.2378. J Orthop Case Rep. 2021. PMID: 35004383 Free PMC article.
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
Gaboon NEA, Parveen A, Ahmad KA, Shuaib T, Al-Aama JY, Abdelwehab L, Arif A, Wasif N. Gaboon NEA, et al. Front Pediatr. 2020 Jul 16;8:383. doi: 10.3389/fped.2020.00383. eCollection 2020. Front Pediatr. 2020. PMID: 32766185 Free PMC article.
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Peracha H, et al. Mol Genet Metab. 2018 Sep;125(1-2):18-37. doi: 10.1016/j.ymgme.2018.05.004. Epub 2018 May 15. Mol Genet Metab. 2018. PMID: 29779902 Free PMC article. Review.
A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report.
Chavan S, Chalipat S, Verma S, Kumar G, Mane S. Chavan S, et al. Cureus. 2024 Sep 16;16(9):e69495. doi: 10.7759/cureus.69495. eCollection 2024 Sep. Cureus. 2024. PMID: 39416591 Free PMC article.

See all "Cited by" articles

References

1. Monatsschr Kinderheilkd. 1954 Feb;102(2):136-48 - PubMed
1. Arch Dis Child. 1952 Oct;27(135):487-97 - PubMed
1. J Pediatr. 1961 Oct;59:549-61 - PubMed
1. Calif Med. 1958 Jan;88(1):55-9 - PubMed
1. Arch Orthop Unfallchir. 1955;47(4-5):463-80 - PubMed

LinkOut - more resources

Full Text Sources
- Europe PubMed Central
- PubMed Central