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Items: 1 to 20 of 137

1.

Prenatal diagnosis of mucolipidosis IV by electron microscopy.

Kohn G, Livni N, Ornoy A, Sekeles E, Beyth Y, Legum C, Bach G, Cohen MM.

J Pediatr. 1977 Jan;90(1):62-6.

PMID:
830895
2.

Mucolipidosis IV: prenatal diagnosis by electron microscopy.

Kohn G, Sekeles E, Arnon J, Ornoy A.

Prenat Diagn. 1982 Oct;2(4):301-7.

PMID:
7156027
3.

Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin.

Kenyon KR, Maumenee IH, Green WR, Libert J, Hiatt RL.

Arch Ophthalmol. 1979 Jun;97(6):1106-11.

PMID:
220944
4.

Mucolipidosis IV: ultrastructural diagnosis of a recently defined genetic disorder.

Livni N, Merin S.

Arch Pathol Lab Med. 1978 Nov;102(11):600-4.

PMID:
581454
5.

Electron microscopy of cultured skin fibroblasts and amniotic fluid cells in the diagnosis of hereditary storage diseases.

Ornoy A, Sekeles E, Cohen R, Kohn G.

Monogr Hum Genet. 1978;10:32-9. No abstract available.

PMID:
102925
6.

Review article: mucolipidosis IV.

Crandall BF, Philippart M, Brown WJ, Bluestone DA.

Am J Med Genet. 1982 Jul;12(3):301-8.

PMID:
7114093
7.

Prenatal diagnosis of mucolipidosis II--electron microscopy and biochemical evaluation.

Carey WF, Jaunzems A, Richardson M, Fong BA, Chin SJ, Nelson PV.

Prenat Diagn. 1999 Mar;19(3):252-6.

PMID:
10210124
8.

Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II).

Aula P, Rapola J, Autio S, Raivio K, Karjalainen O.

J Pediatr. 1975 Aug;87(2):221-6.

PMID:
168339
9.
10.

Morphology of the placenta in fetal I-cell disease.

Rapola J, Aula P.

Clin Genet. 1977 Feb;11(2):107-13.

PMID:
837559
11.

Mucolipidosis type IV: accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis.

Zeigler M, Bargal R, Suri V, Meidan B, Bach G.

Prenat Diagn. 1992 Dec;12(12):1037-42.

PMID:
1287639
12.

Mucolipidosis IV.

Cantani A.

Am J Dis Child. 1983 Jan;137(1):88. No abstract available.

PMID:
6847966
13.

Mucolipidosis IV.

Goutières F, Arsenio-Nunes ML, Aicardi J.

Neuropadiatrie. 1979 Nov;10(4):321-31.

PMID:
231746
14.

Ultrastructure of cultured fibroblasts in mucolipidosis type IV.

Livni N, Legum C.

Exp Cell Biol. 1976;44(1):1-11.

PMID:
187459
15.

Ocular findings in I-cell disease (mucolipidosis type II).

Libert J, Van Hoof F, Farriaux JP, Toussaint D.

Am J Ophthalmol. 1977 May;83(5):617-28.

PMID:
868962
16.

Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation.

Dangel ME, Bremer DL, Rogers GL.

Am J Ophthalmol. 1985 Feb 15;99(2):137-41.

PMID:
3970116
17.

Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.

Tondeur M, Libert J, Vamos E, Van Hoof F, Thomas GH, Strecker G.

Eur J Pediatr. 1982 Oct;139(2):142-7.

PMID:
7151835
18.

Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells.

Hug G, Soukup S, Ryan M, Chuck G.

N Engl J Med. 1984 Apr 19;310(16):1018-22.

PMID:
6369132
19.

Mucolipidosis type IV. Presentation of a mild variant.

Casteels I, Taylor DS, Lake BD, Spalton DJ, Bach G.

Ophthalmic Paediatr Genet. 1992 Dec;13(4):205-10.

PMID:
1488220
20.

Ocular abnormalities in mucolipidosis IV.

Riedel KG, Zwaan J, Kenyon KR, Kolodny EH, Hanninen L, Albert DM.

Am J Ophthalmol. 1985 Feb 15;99(2):125-36.

PMID:
3918453
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