Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension

Author:

del Toro Mireia,Arranz José Antonio,Macaya Alfons,Riudor Encarnació,Raspall Miquel,Moreno Antonio,Vazquez Elida,Ortega Arancha,Matsubara Yoichi,Kure Shigeo,Roig Manuel

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference20 articles.

1. Nonketotic hyperglycinemia: molecular lesion, diagnosis and pathophysiology;Tada;J Inherit Metab Dis,1993

2. A comprehensive mutation analysis of GLDC, AMT and GCSH in glycine encephalopathy;Kure;J Inherit Metab Dis,2003

3. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene;Deng;Am J Hum Genet,2000

4. Riudor E, Urgelles M, Colomer L, et al. Familial pulmonary hypertension with non ketotic hyperglycinemia (Abstract). Paper presented at: 30th SSIEM Conference; 1992; Leuven, Belguim; p. A38.

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