This syndrome is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. It has been described in thr

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retard psychomoteur par déficit en S-adénosylhomocystéine hydrolase

SNOMEDCT-BE (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. It has been described in thr / 724039002

SNOMEDCT-BE (disorder) / 724039002

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https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]

A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SL

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myopathie métabolique par défaut de transport du lactate

SNOMEDCT-BE (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SL / 766715000

SNOMEDCT-BE (disorder) / 766715000

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cyclin-dependent kinase | CDK

http://gdt.oqlf.gouv.qc.ca/fic (...) (...) [HTML] [2018-01-01]

kinase dépendante des cyclines

biologie > enzyme | biologie > génie génétique

http://gdt.oqlf.gouv.qc.ca/fic (...) (...) [HTML] [2018-01-01]

http://gdt.oqlf.gouv.qc.ca/fic (...) [HTML] [2018-01-01]

calcium/calmodulin kinase

http://www.btb.termiumplus.gc. (...) (...) [HTML] [2018-01-01]

calcium/calmoduline kinase

Nervous System | Special-Language Phraseology

Système nerveux | Phraséologie des langues de spécialité

http://www.btb.termiumplus.gc. (...) (...) [HTML] [2018-01-01]

http://www.btb.termiumplus.gc. (...) [HTML] [2018-01-01]

A rare, very severe form of mevalonate kinase deficiency with characteristics of dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

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acidurie mévalonique

SNOMEDCT-BE (disorder) / 718558008

https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]

https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]

Others have searched : map kinase calcium calmodulin kinase cyclin-dependent kinase kinase mitogen activated protein kinase mitogen-activated protein kinase phosphoglycerate kinase phosphoglyceric acid protein kinase thymidine kinase positive cell thymidine kinase proficient cell Phosphoglycerate kinase

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'Phosphoglycerate kinase'

Date index:2023-02-10 -

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Translation of "Phosphoglycerate kinase " (English → French) :

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Paris - Brussels - Montreal - Genève - Luxembourg - Madrid

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