SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.

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SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.

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SSADH deficiency in an Italian ...... dehyde substrate binding site.

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SSADH deficiency in an Italian ...... dehyde substrate binding site.

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SSADH deficiency in an Italian ...... dehyde substrate binding site.

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SSADH deficiency in an Italian ...... dehyde substrate binding site.

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SSADH deficiency in an Italian ...... dehyde substrate binding site.

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SSADH deficiency in an Italian ...... dehyde substrate binding site.

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P1476

SSADH deficiency in an Italian ...... dehyde substrate binding site.

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P2093

Bianca Maria Ciminelli

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Concetta Capo

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Giovanna Menduti

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Luisa Rossi

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Maria Alice Donati

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Sara Leo

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Silvia Funghini

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P2860

The FoldX web server: an online force field

Redox-switch modulation of human SSADH by dynamic catalytic loop

Succinic semialdehyde dehydrogenase deficiency in children and adults

Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism

How protein stability and new functions trade off

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency

Energy estimation in protein design.

Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

P2888

s11011-017-0058-5

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1383-1388

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scholarly article

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10.1007/S11011-017-0058-5

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P478

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Mattia Falconi

Federico Iacovelli

Patrizia Malaspina

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2017-06-29T00:00:00Z

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P698

28664505

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An Eadailt