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Facial dystonia with facial grimacing and vertical gaze palsy with “round the houses” sign in a 29-year-old woman... A bone marrow biopsy showed an increased number of macrophages with foamy content, highly suggestive of lysosomal disease....

santé - core.ac.uk - PDF: figshare.com

lysosomal storage disease

santé - iate.europa.eu

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Original article screening for fabry disease in left ventricular hypertrophy: documentation of a novel mutationBackground: Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene....

santé / activité agricole - core.ac.uk - PDF: ftp:

Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screeningCystinosis is an autosomal recessive lysosomal storage disease caused by mutations in CTNS....

PDF: www.loc.gov

Distinct niemann-pick disease type c clinical, cytological, and biochemical phenotype in an adult patient with 1 mutated, overexpressed alleleNiemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal storage disease....

PDF: doaj.org

Pompe disease: current state of treatment modalities and animal modelsPompe disease is a rare autosomal recessive lysosomal storage disease caused by deficiency of acid-alpha-glucosidase (GAA)....

PDF: www.loc.gov

Fucosidosis: four new mutations and a new polymorphismFucosidosis is a rare lysosomal storage disease due to a nearly complete deficiency of a-L-fucosidase (EC 3.2.1.51)....

PDF: hmg.oxfordjournals.org

Publications scientifiques

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Abca5 resides in lysosomes, and abca5 knockout mice develop lysosomal disease-like symptoms... Abca5(−)(/)(−) mice exhibited symptoms similar to those of several lysosomal diseases in heart, although no prominent abnormalities were found in brain or lung....

général - core.ac.uk - PDF: www.pubmedcentral.nih.gov

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Pulmonary changes induced by amphophilic drugs.... In summary, administration of amphophilic compounds causes a drug-induced lysosomal disease or generalized phospholipidosis

général - core.ac.uk - PDF: www.pubmedcentral.nih.gov

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X-linked angelman-like syndrome caused by slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction... Neuroaxonal dystrophy similar to that observed in lysosomal disease was observed in the cerebellum and was accompanied by a marked and progressive loss of Purkinje cells, particularly in those lacking the expression of Zebrin...

général - core.ac.uk - PDF: www.pubmedcentral.nih.gov

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Imiglucerase in the treatment of gaucher disease: a history and perspective...disease.Keywords: enzyme therapy, ultra-orphan, macrophage targeting, lysosomal disease, mannose lectin, biopharmaceutica

général - core.ac.uk - PDF: doaj.org

Synonymes et termes associés français

maladie lysosomiale

•

déficit

•

impasse budgétaire

Exemples français - anglais

contraction du déficit

deficit reduction

finances - iate.europa.eu

financement du déficit

deficit financing

finances - iate.europa.eu

réduction du déficit

deficit reduction

relations monétaires / économie monétaire / union européenne - iate.europa.eu

[...]

maladie du stockage

storage disease

stockage du houblon

hop storage

moment du stockage

time of taking into store

Contrôle du stockage

Storage control

Checks on storage

contrôle du stockage

storage control

stockage du froid

coolness-storage

cold storage

stockage du coke

coke storage

stockage du propergol

propellant storage

stockage du malt

malt storage

stockage du CO2

carbon storage

CO2 storage

carbon dioxide storage

déficit du budget

budget deficit

fiscal deficit

budgetary deficit

déficit budgétaire

budget deficit

fiscal deficit

budgetary deficit

déficit du Trésor

budget deficit

fiscal deficit

budgetary deficit

employé du stockage(h/f)

warehouse assistant(m/f)

déficit audiométrique induit par le bruit

noise induced hearing loss

déficit audiométrique

noise induced hearing loss

déficit du commerce extérieur

trade deficit

trade balance deficit

trade gap

[...]

trade balance gap

foreign trade deficit

trade imbalance

external trade gap

déficit commercial

trade deficit

trade balance deficit

trade gap

[...]

trade balance gap

foreign trade deficit

trade imbalance

external trade gap

déficit de la balance commerciale

trade deficit

trade balance deficit

trade gap

[...]

trade balance gap

foreign trade deficit

trade imbalance

external trade gap

déficit résiduel

residual deficiency

syndrome du déficit de l'attention

Attention Deficit Disorder

ADD

déficit de l'attention

Attention Deficit Disorder

ADD

Traductions en contexte français - anglais

Cette invention concerne des méthodes permettant de déterminer si un patient atteint d’un déficit du stockage lysosomal tirera les bénéfices d’un traitement avec un chaperon moléculaire pharmacologique spécifique.

The present invention provides methods to determine whether a patient with a lysosomal storage disorder will benefit from treatment with a specific pharmacological chaperone.

santé - wipo.int

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