Did you mean: Galactosemia
The very rare subtype (galactose epimerase deficiency) has a variable clinical picture including the usual signs of galactosemia (hypotonia, poor feeding, ...
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Mar 11, 2021 · The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, ...
A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. ORPHA: ...
Nov 9, 2022 · La galattosemia è una rara malattia metabolica genetica potenzialmente mortale che può manifestarsi fin dalla nascita.
Galactosemia I (GALAC1), or classic galactosemia, is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, ...
Dec 4, 2014 · Duarte variant galactosemia is diagnosed by a combination of biochemical and genetic testing. Specifically, erythrocyte galactose-1-phosphate ...
Oct 2, 2019 · La galattosemia è una rara malattia metabolica, trasmessa per via autosomica recessiva e caratterizzata dall'incapacità di metabolizzare il ...
La galattosemia (un alto livello di galattosio) è un disturbo del metabolismo dei carboidrati causato dalla mancanza di uno degli enzimi necessari per ...
