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topic_facet:"Organic acidemia"
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PubPharm (2)
1
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries : Selective screening vs. expanded newborn screening
enthalten in:
Molecular genetics and metabolism reports
| 2018
von
Shibata, N.
|
Hasegawa, Y.
|
Yamada, K.
| +15
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2
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries : Selective screening vs. expanded newborn screening
enthalten in:
Molecular genetics and metabolism reports
| 21 May 2018
von
Shibata, N.
|
Hasegawa, Y.
|
Yamada, K.
| +15
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1
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Thema: Organic acidemia
Medienart
2
Aufsätze
2
E-Artikel
2
E-Ressourcen
Zeitschriftentitel
2
Molecular genetics and metabolism reports
Thema
2
Amino acid disorder
2
Expanded newborn screening
2
Fatty acid oxidation disorder
2
Incidence rate
2
Inherited metabolic disease
Organic acidemia
1
2-OH-GA, 2-hydroxyglutaric acidemia
1
4-OH-BA, 4-hydroxybutyric acidemia
1
AA, amino acid disorder
1
ASA, argininosuccinic aciduria
1
BKTD, β-ketothiolase deficiency
1
CACT, carnitine-acylcarnitine translocase
1
CPT1, carnitine palmitoyltransferase I
1
CPT2, carnitine palmitoyltransferase II
1
CTLN1, citrullinemia type I
1
ENBS, expanded newborn screening
1
FAOD, fatty acid oxidation disorder
1
GA1, glutaric acidemia type I
1
GA2, glutaric acidemia type II
1
GC/MS, gas chromatography–mass spectrometry
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