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GALACTOSEMIE [2 records]
Record 1 - internal organization data 2024-09-20
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Liver and Biliary Ducts
- Genetics
Record 1, Main entry term, English
- galactosemia
1, record 1, English, galactosemia
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Galactosemia is a rare hereditary disease that can lead to cirrhosis in infants, and early, devastating illness if not diagnosed quickly. This disease is caused by elevated levels of galactose (a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism (breakdown). 2, record 1, English, - galactosemia
Record number: 1, Textual support number: 1 OBS
The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia ... 3, record 1, English, - galactosemia
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Foie et voies biliaires
- Génétique
Record 1, Main entry term, French
- galactosémie
1, record 1, French, galactos%C3%A9mie
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Maladie métabolique héréditaire affectant le métabolisme du galactose, caractérisée par une augmentation de la concentration du galactose et de ses métabolites toxiques dans le sang et les organes. 2, record 1, French, - galactos%C3%A9mie
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas varias
- Hígado y conductos biliares
- Genética
Record 1, Main entry term, Spanish
- galactosemia
1, record 1, Spanish, galactosemia
feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2011-09-27
Record 2, English
Record 2, Subject field(s)
- Biochemistry
Record 2, Main entry term, English
- galactosaemia
1, record 2, English, galactosaemia
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
An absence of galactose 1-phosphate uridyl transferase which is involved in the conversion of galactose to glucose. 2, record 2, English, - galactosaemia
Record 2, French
Record 2, Domaine(s)
- Biochimie
Record 2, Main entry term, French
- galactosémie
1, record 2, French, galactos%C3%A9mie
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record 2, Spanish
Record 2, Textual support, Spanish
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