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Find out more about cookies in our Cookie Policy. Reject cookies Accept cookies. The topic of IMD is challenging for most physicians. The number of known metabolic disorders is probably as large as the number of presenting symptoms that may indicate metabolic disturbances. Advances in the diagnosis and treatment of IMDs have improved the outlook for many of these conditions so that early diagnosis, if possible in infancy, can be helpful.
At present Laboratory testing for several metabolic disorders is done by new-born screening programs in all children in many hospitals to rule out IMD early. The content of this review articles will make awareness among the researchers on many clinical manifestations of IMD providing the basis for early diagnosis for initiating prompt treatment.
Roberto Giugliani. Log in with Facebook Log in with Google. Remember me on this computer. Enter the email address you signed up with and we'll email you a reset link. Need an account? Click here to sign up. Download Free PDF. Romina Kohan Patricia Pons. Related Papers. Clinica chimica acta; international journal of clinical chemistry First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.
Orphanet Journal of Rare Diseases Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. Atlas of genetic counseling. Atlas of metabolic diseases. Journal of Chromatography B: Biomedical Sciences and Applications Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases.
Molecular Genetics and Metabolism Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit.
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