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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 77 - 77
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, p. 77
Abstract Background Clinical features, complications and treatments of Gaucher’s disease (GD), a rare autosomal–recessive disorder due to a confirmed lysosomal... 
Enzyme-replacement therapy | French Gaucher’s Disease Registry | Bone events
Journal Article
M/S : médecine sciences, ISSN 0767-0974, 11/2005, Volume 21, Issue 11, pp. 981 - 986
Les maladies héréditaires du métabolisme ont acquis une place de plus en plus importante dans la pathologie pédiatrique. Leur nombre ne cesse d’augmenter au... 
Journal Article
Medecine sciences : M/S, ISSN 0767-0974, 11/2005, Volume 21, Issue 11, p. 981
New metabolic diseases are regularly identified by a genetic or biochemical approach. Indeed, the metabolic diseases result from an enzymatic block with... 
Plasma Membrane Neurotransmitter Transport Proteins - analysis | Aldose-Ketose Isomerases - deficiency | Creatine - analysis | Metabolism, Inborn Errors - diagnostic imaging | Guanidinoacetate N-Methyltransferase - genetics | Humans | Nerve Tissue Proteins - deficiency | Dihydroxyphenylalanine - analogs & derivatives | Nerve Tissue Proteins - analysis | Amidinotransferases - genetics | Infant | Positron-Emission Tomography | Genetic Testing - methods | Congenital Hyperinsulinism - genetics | Pentoses - metabolism | Creatine - deficiency | Genetic Testing - trends | Amidinotransferases - analysis | Radiopharmaceuticals | Infant, Newborn | Pancreas - diagnostic imaging | Aldose-Ketose Isomerases - analysis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Amidinotransferases - deficiency | Guanidinoacetate N-Methyltransferase - analysis | Magnetic Resonance Spectroscopy | Dopa Decarboxylase - analysis | Dopa Decarboxylase - deficiency | Metabolism, Inborn Errors - genetics | Nerve Tissue Proteins - genetics | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Radiography | Metabolism, Inborn Errors - diagnosis | Dopa Decarboxylase - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Creatine - therapeutic use | Brain Chemistry | Aldose-Ketose Isomerases - genetics | Pentose Phosphate Pathway | Congenital Hyperinsulinism - diagnostic imaging
Journal Article
médecine/sciences, ISSN 0767-0974, 11/2005, Volume 21, Issue 11, pp. 981 - 986
Journal Article
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