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Items: 1 to 20 of 74

1.

I-cell disease: clinical studies of 21 Japanese cases.

Okada S, Owada M, Sakiyama T, Yutaka T, Ogawa M.

Clin Genet. 1985 Sep;28(3):207-15.

PMID:
2998652
2.

[Congenital epiphyseal chondrodysplasia punctata. Study of 9 cases].

Frontera Izquierdo P, Cabezuelo Huerta G, Malo Concepción P.

An Esp Pediatr. 1985 Sep;23(3):175-82. Spanish.

PMID:
4073686
3.

[Mucolipidosis II or "I-cell disease" in the newborn infant. 2 new cases].

Tamés I, Gracía A, Aladro A, Vieito X, González FA, Chabas A.

An Esp Pediatr. 1987 Oct;27(4):297-302. Spanish. Erratum in: An Esp Pediatr 1988 Feb;28(2):178. García A [corrected to Gracía A].

PMID:
2827550
4.

[The fetal alcohol syndrome. Description of 2 cases].

Baldassar Ferrero AM, De Sario R, Miglio C, Stradoni P.

Ann Osp Maria Vittoria Torino. 1982 Jul-Dec;25(7-12):215-25. Italian.

PMID:
7187854
5.

I-cell disease presenting with severe hypophosphatemia and cardiomyopathy.

Bocca G, Noordam C, Wevers RA, de Jong JG, van der Meer W, de Keijzer MH, Korver CR, Smeitink JA.

Neuropediatrics. 2000 Feb;31(1):49-50. No abstract available.

PMID:
10774999
6.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, et al.

Am J Med Genet. 1988 Nov;31(3):565-89. Review.

PMID:
3067577
7.

Clinical heterogeneity in 80 home-reared children with cri du chat syndrome.

Wilkins LE, Brown JA, Nance WE, Wolf B.

J Pediatr. 1983 Apr;102(4):528-33.

PMID:
6834187
8.

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF.

Pediatrics. 2003 Feb;111(2):258-61.

PMID:
12563048
10.

[Growth in height, bone and endocrine abnormalities in hypoplasia of the intrahepatic bile ducts. Eleven cases].

Courtecuisse V, Dommergues JP, Girard F, Limal JM.

Ann Pediatr (Paris). 1976 Sep;23(8-9):525-31. French. No abstract available.

PMID:
16104187
12.
13.

Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.

Thomas GH, Miller CS, Toomey KE, Reynolds LW, Reitman ML, Varki A, Vannier A, Rosebaum KN, Bias WB, Schofield BH.

Am J Hum Genet. 1982 Jul;34(4):611-22.

14.

Pediatric stroke among Hong Kong Chinese subjects.

Chung B, Wong V.

Pediatrics. 2004 Aug;114(2):e206-12.

PMID:
15286258
16.

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M.

J Med Genet. 2004 Apr;41(4):e52. No abstract available.

17.

Central and peripheral nervous system dysfunction in the clinical variation of Salla disease.

Varho T, Jääskeläinen S, Tolonen U, Sonninen P, Vainionpää L, Aula P, Sillanpää M.

Neurology. 2000 Jul 12;55(1):99-104.

PMID:
10891913
19.

KBG syndrome.

Brancati F, Sarkozy A, Dallapiccola B.

Orphanet J Rare Dis. 2006 Dec 12;1:50. Review.

20.

[Tuberous sclerosis: a multidisciplinary study of 15 cases].

Yacubian EM, Assumpção Júnior FB, Duarte JC, da Cruz LM, Colarille LC, Marcucci M, Madruga MF, Sprovieri MH, Funari, Lauandos TR, et al.

Arq Neuropsiquiatr. 1983 Jun;41(2):163-70. Portuguese.

PMID:
6639401

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