Literature DB >> 722439

Neonatal presentation of I-cell disease.

R A Sprigz, R A Doughty, T J Spackman, M J Murane, P M Coates, O Koldovský, E H Zackai.   

Abstract

Two patients are described in whom the diagnosis of I-cell disease was established in early infancy. These patients lacked many of the clinical and radiographic features described in other children with this disorder. Differences between the neonatal and early childhood presentation of ICD are discussed.

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Mesh:

Year:  1978        PMID: 722439     DOI: 10.1016/s0022-3476(78)81218-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  11 in total

Review 1.  Screening for lysosomal disorders.

Authors:  K Ullrich
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

2.  Neonatal I-cell disease: clinical and biochemical observations.

Authors:  H Ohta; T Mori; Y Eto; K Maekawa
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

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

5.  I-cell disease.

Authors:  Z M Patel; L M Ambani
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

6.  Difficult intubation management in a child with I-cell disease.

Authors:  Abdul Kader M Mahfouz; G George; Suhaila S Al-Bahlani; Mohamed Z Al Nabhani
Journal:  Saudi J Anaesth       Date:  2010-05

7.  Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II).

Authors:  H Yamada; M Ohya; T Higeta; S Kinoshita
Journal:  Childs Nerv Syst       Date:  1987       Impact factor: 1.475

8.  Cathepsin-Mediated Alterations in TGFß-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting.

Authors:  Heather Flanagan-Steet; Megan Aarnio; Brian Kwan; Pierre Guihard; Aaron Petrey; Mark Haskins; Frederic Blanchard; Richard Steet
Journal:  J Bone Miner Res       Date:  2015-10-13       Impact factor: 6.741

9.  Mucolipidosis II: correlation between radiological features and histopathology of the bones.

Authors:  U E Pazzaglia; G Beluffi; J B Campbell; E Bianchi; N Colavita; F Diard; P Gugliantini; U Hirche; K Kozlowski; A Marchi
Journal:  Pediatr Radiol       Date:  1989

10.  Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II.

Authors:  Aaron C Petrey; Heather Flanagan-Steet; Steven Johnson; Xiang Fan; Mitche De la Rosa; Mark E Haskins; Alison V Nairn; Kelley W Moremen; Richard Steet
Journal:  Dis Model Mech       Date:  2011-11-01       Impact factor: 5.758

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