Organic-aciduria, decreased renal ammonia producti...[AMA Am J Dis Child. 1952]

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1: AMA Am J Dis Child. 1952 Feb;83(2):164-84.Links

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.

PMID: 14884753 [PubMed - indexed for MEDLINE]

Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases.
Hyvola N, Diao A, McKenzie E, Skippen A, Cockcroft S, Lowe M. EMBO J. 2006 Aug 23; 25(16):3750-61. Epub 2006 Aug 10.

[EMBO J. 2006]
Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network.
Choudhury R, Diao A, Zhang F, Eisenberg E, Saint-Pol A, Williams C, Konstantakopoulos A, Lucocq J, Johannes L, Rabouille C, et al. Mol Biol Cell. 2005 Aug; 16(8):3467-79. Epub 2005 May 25.

[Mol Biol Cell. 2005]
OCULAR INVOLVEMENT IN HOMOCYSTINURIA.
ARNOTT EJ, GREAVES DP. Br J Ophthalmol. 1964 Dec; 48:688-9.

[Br J Ophthalmol. 1964]
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