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Literature DB >> 673536

Radiological signs of mucolipidosis II or I-cell disease. A study of nine cases.

L Lemaitre, J Remy, J P Farriaux, J L Dhondt, R Walbaum.

Abstract

Nine cases of mucolipidosis II are presented with illustrations and a discussion of specific radiologic features: these distinguish Mucolipidosis II from other storage diseases.

Entities: Disease

Mesh：

Year: 1978 PMID： 673536 DOI： 10.1007/BF00975678

Source DB: PubMed Journal: Pediatr Radiol ISSN： 0301-0449

20 in total

1. Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.

Authors: M Tondeur; E Vamos-Hurwitz; S Mockel-Pohl; J P Dereume; N Cremer; H Loeb
Journal: J Pediatr Date: 1971-09 Impact factor: 4.406

2. [Mucolipidosis type II (inclusion cell disease). Study of a case and review of the literature].

Authors: G de Montis; P Garnier; N Thomassin; J C Job; A Rossier
Journal: Ann Pediatr (Paris) Date: 1972-05-02

3. [One case of mucolipidosis type II (I. cell disease)].

Authors: A Brault; G Martin
Journal: Arch Fr Pediatr Date: 1972-10

4. I-Cell Disease.

Authors: U Luchsinger; E M Bühler; K Méhes; H R Hirt
Journal: N Engl J Med Date: 1970-06-11 Impact factor: 91.245

5. [Type II mucolipidosis].

Authors: P Maroteaux; M C Hors-Cayla; J Pont
Journal: Presse Med Date: 1970-01-24 Impact factor: 1.228

6. [Neonatal thrombopenia and type II mucolipidosis].

Authors: J J Baudon; J L Fontaine; P Toubas; M Gadot
Journal: Nouv Presse Med Date: 1972-04-15

7. [Primary hyperparathyroidism in a newborn infant].

Authors: R Du Bois; J P Farriaux; E Maillard; J P Maillard
Journal: Ann Radiol (Paris) Date: 1969

8. [Mucolipidosis Type II. STudy of 2 familial cases. Clinical and biochemical aspects].

Authors: A Joannard; M Bost; J Pont; M Dieterlen; P Frappat; A Beaudoing
Journal: Pediatrie Date: 1974-12

9. Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants.

Authors: E F Gilbert; J M Opitz; J W Spranger; L O Langer; J J Wolfson; C Viseskul
Journal: Eur J Pediatr Date: 1976-09-01 Impact factor: 3.183

10. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.

Authors: J G Leroy; R I Demars
Journal: Science Date: 1967-08-18 Impact factor: 47.728

10 in total

1. I-cell disease (Mucolipidosis II).

Authors: M Kabra; S Gulati; M Kaur; J Sharma; A Singh; V Chopra; P S Menon; V Kalra
Journal: Indian J Pediatr Date: 2000-09 Impact factor: 1.967

2. Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation.

Authors: D S Babcock; K E Bove; G Hug; P S Dignan; S Soukup; N S Warren
Journal: Pediatr Radiol Date: 1986

3. Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

Authors: Sheila Unger; David A Paul; Michelle C Nino; Charles P McKay; Stephen Miller; Etienne Sochett; Nancy Braverman; Joe T R Clarke; David E C Cole; Andrea Superti-Furga
Journal: Eur J Pediatr Date: 2004-12-03 Impact factor: 3.183

4. Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases.

Authors: U E Pazzaglia; G Beluffi; C Danesino; P V Frediani; G Pagani; G Zatti
Journal: Pediatr Radiol Date: 1989

10. A case of I-cell disease (mucolipidosis II) presenting with short femurs on prenatal ultrasound and profound diaphyseal cloaking.

Authors: Thomas Capobres; Gauravi Sabharwal; Brent Griffith
Journal: BJR Case Rep Date: 2016-07-28