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January 2022

Home  /  2022  /  January
January 15, 2022
Metabolic Diseases, NGS
ENDGF556

D-2-hydroxyglutaric aciduria: D2HGDH gene

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By Mario Fonte
0
January 29, 2022
Metabolic Diseases, NGS
ENDGF558

GLUT1 deficiency syndrome 1: SLC2A1 gene

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By Mario Fonte
0
January 22, 2022
Nephrology, NGS
ENDGF557

Hyperoxaluria, primary: AGXT, GRHPR, HOGA1 genes

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By Mario Fonte
0
January 14, 2022
Metabolic Diseases, NGS
ENDGF552

McArdle disease: PYGM gene

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By Mario Fonte
0
January 14, 2022
Neurology, NGS, NGS, Pediatrics
ENDGF553

Moyamoya disease: ACTA2, GUCY1A3, RNF213 genes

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By Mario Fonte
0
January 14, 2022
Cardiology, Neurology, NGS, NGS, NGS, Pediatrics
ENDGF554

Periodic paralysis: gene panel

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By Mario Fonte
0
January 14, 2022
Metabolic Diseases, NGS
ENDGF555

Xanthinuria, type I: XDH gene

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By Mario Fonte
0
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