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Search Results - Gökmenoğlu, Hatice
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Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing
by
Ezgu, Fatih
,
Çiftci, Bahattin
,
Topçu, Burcu
,
Adıyaman, Gülcan
,
Gökmenoğlu, Hatice
,
Küçükçongar, Aynur
,
Kasapkara, Çiğdem
,
Biberoğlu, Gürsel
,
Tümer, Leyla
,
Hasanoğlu, Alev
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Metabolic brain disease
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Metabolic Brain Disease
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Base Sequence
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Biochemistry
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Biomedical And Life Sciences
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Biomedicine
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Diagnosis
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Dna Mutational Analysis - Methods
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Endocrinology & Metabolism
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Female
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Genes, Recessive
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Glycine - Blood
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Glycine - Cerebrospinal Fluid
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Glycine Dehydrogenase - Deficiency
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Glycine Dehydrogenase - Genetics
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Homozygote
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Humans
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Hyperglycinemia, Nonketotic - Diagnosis
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Hyperglycinemia, Nonketotic - Enzymology
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Hyperglycinemia, Nonketotic - Genetics
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Hyperglycinemia, Nonketotic - Metabolism
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Infant
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Springer Nature
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