Literature DB >> 13951659

[Anatomical verifications in a child with Lowe's syndrome].

R HABIB, E BARGETON, H E BRISSAUD, J RAYNAUD, J C LE BALL.   

Abstract

Entities:  

Keywords:  NEUROLOGY

Mesh：

Year:  1962        PMID： 13951659

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN： 0003-9764


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  5 in total

1.  Central nervous system and renal investigations in patients with Lowe syndrome.

Authors:  S M Pueschel; A S Brem; P Nittoli
Journal:  Childs Nerv Syst       Date:  1992-02       Impact factor: 1.475

2.  Oculo-cerebro-renal syndrome: failure to demonstrate specific neuropathological abnormalities in four cases.

Authors:  A K Banerjee; I V Allen; P McKee
Journal:  Ir J Med Sci       Date:  1982-02       Impact factor: 1.568

3.  Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Authors:  V Satre; N Monnier; F Berthoin; C Ayuso; A Joannard; P S Jouk; I Lopez-Pajares; A Megabarne; H J Philippe; H Plauchu; M L Torres; J Lunardi
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

4.  Interaction of Rab31 and OCRL-1 in oligodendrocytes: its role in transport of mannose 6-phosphate receptors.

Authors:  A G Rodriguez-Gabin; E Ortiz; K Demoliner; Q Si; G Almazan; J N Larocca
Journal:  J Neurosci Res       Date:  2010-02-15       Impact factor: 4.164

Review 5.  The oculocerebrorenal syndrome of Lowe: an update.

Authors:  Arend Bökenkamp; Michael Ludwig
Journal:  Pediatr Nephrol       Date:  2016-03-24       Impact factor: 3.714
  5 in total

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