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AMYLOPECTINOSIS [2 records]
Record 1 - internal organization data 2003-04-04
Record 1, English
Record 1, Subject field(s)
- Endocrine System and Metabolism
- Liver and Biliary Ducts
- Genetics
Record 1, Main entry term, English
- Andersen’s disease
1, record 1, English, Andersen%26rsquo%3Bs%20disease
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- Andersen disease 2, record 1, English, Andersen%20disease
correct
- Najjar-Andersen syndrome 1, record 1, English, Najjar%2DAndersen%20syndrome
correct
- glycogenosis IV 3, record 1, English, glycogenosis%20IV
correct
- glycogen storage disease type IV 3, record 1, English, glycogen%20storage%20disease%20type%20IV
correct
- GSD IV 1, record 1, English, GSD%20IV
correct
- alpha 1,4-glucan-6-glucosyl transferase deficiency 1, record 1, English, alpha%201%2C4%2Dglucan%2D6%2Dglucosyl%20transferase%20deficiency
correct
- amylopectinosis brancher deficiency 1, record 1, English, amylopectinosis%20brancher%20deficiency
- brancher enzyme deficiency 1, record 1, English, brancher%20enzyme%20deficiency
- brancher deficiency 2, record 1, English, brancher%20deficiency
- amylopectinosis 2, record 1, English, amylopectinosis
- familial cirrhosis with deposition of abnormal glycogen 1, record 1, English, familial%20cirrhosis%20with%20deposition%20of%20abnormal%20glycogen
- liver cirrhosis-abnormal glycogen syndrome 1, record 1, English, liver%20cirrhosis%2Dabnormal%20glycogen%20syndrome
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
An inborn disorder of the endocrine glands with error of glycogen metabolism due to a 1,4-glucan-alpha 1,4-glucan-6-glucosyl transferase deficiency. 1, record 1, English, - Andersen%26rsquo%3Bs%20disease
Record 1, French
Record 1, Domaine(s)
- Systèmes endocrinien et métabolique
- Foie et voies biliaires
- Génétique
Record 1, Main entry term, French
- maladie d'Andersen
1, record 1, French, maladie%20d%27Andersen
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- glycogénose musculaire type IV 2, record 1, French, glycog%C3%A9nose%20musculaire%20type%20IV
feminine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Le déficit en enzyme branchante (amylo-1,4-> 1,6-transglycosylase) ou glycogénose de type IV (maladie d'Andersen) a un spectre très étendu de phénotypes cliniques. L'enzyme est codée par un gène porté par le chromosome 3. Le déficit enzymatique, transmis selon un mode autosomique récessif, peut être cliniquement silencieux ou s'exprimer par une atteinte hépatique, cardiaque, musculaire, squellettique ou cérébrale. [...] Le diagnostic repose sur la mise en évidence de l'accumulation glycogénique [...] dans les tissus atteints. 1, record 1, French, - maladie%20d%27Andersen
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 1976-06-19
Record 2, English
Record 2, Subject field(s)
- Biological Sciences
- Blood
Record 2, Main entry term, English
- brancher enzyme deficiency 1, record 2, English, brancher%20enzyme%20deficiency
Record 2, Abbreviations, English
Record 2, Synonyms, English
- amylopectinosis 1, record 2, English, amylopectinosis
Record 2, Textual support, English
Record 2, French
Record 2, Domaine(s)
- Sciences biologiques
- Sang
Record 2, Main entry term, French
- déficience en enzyme branchante
1, record 2, French, d%C3%A9ficience%20en%20enzyme%20branchante
feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 OBS
Statistique, janvier 1969. Classification internationale des maladies. 1, record 2, French, - d%C3%A9ficience%20en%20enzyme%20branchante
Record 2, Spanish
Record 2, Textual support, Spanish
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