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Gilbert disease - UGT1A1*28,*36,*37 {A(TA)nTAA} + *6 genotyping - Pharmacogenetics
UGT1A1
Transient familial neonatal hyperbilirubinemia
,
Irinotecan toxicity
,
Raltegravir toxicity
Centre de Génétique Médicale UCL
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) - Pharmacogenetics
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
Centre de Génétique Humaine - Erasme ULB
Gilbert disease / Irinotecan sensitivity / Raltegravir toxicity - Pharmacogenetics
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
Centre de Génétique Humaine - CHU Sart-Tilman
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele)
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
,
Transient familial neonatal hyperbilirubinemia
Centrum Menselijke Erfelijkheid - KUL
Enzymatic dosage Pompe disease
Glycogen storage disease due to acid maltase deficiency
,
Glycogen storage disease due to acid maltase deficiency, infantile onset
,
Glycogen storage disease due to acid maltase deficiency, late-onset
Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene)
GAA
Glycogen storage disease due to acid maltase deficiency, infantile onset
,
Glycogen storage disease due to acid maltase deficiency, late-onset
Centrum Medische Genetica - UZ Brussel VUB
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)
Paternal uniparental disomy of chromosome 7
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
,
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
,
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Maternal uniparental disomy of chromosome 16
Centrum Medische Genetica - UZ Gent
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