Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
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Prevalence of adenylosuccinate lyase deficiency based on aggregated exome dataNovel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelinesCryptococcus neoformans ADS lyase is an enzyme essential for virulence whose crystal structure reveals features exploitable in antifungal drug design.Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.Metabolomics toward personalized medicine.
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Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 27 July 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Diagnosis of adenylosuccinate ...... reveals a phenotypic spectrum.
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Diagnosis of adenylosuccinate ...... reveals a phenotypic spectrum.
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label
Diagnosis of adenylosuccinate ...... reveals a phenotypic spectrum.
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Diagnosis of adenylosuccinate ...... reveals a phenotypic spectrum.
@nl
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Diagnosis of adenylosuccinate ...... reveals a phenotypic spectrum.
@en
Diagnosis of adenylosuccinate ...... reveals a phenotypic spectrum.
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P2093
P2860
P50
P1476
Diagnosis of adenylosuccinate ...... reveals a phenotypic spectrum.
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P2093
Aaron L Cardon
Brenda E Porter
Fiona M Baumer
Juanita Neira
Leroy Hubert
Lisa T Emrick
Marcus J Miller
Paldeep S Atwal
Taraka R Donti
V Reid Sutton
P2860
P356
10.1016/J.YMGMR.2016.07.007
P577
2016-07-27T00:00:00Z