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Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage caused by the functional loss of sulfite oxidase, 1 of 4 molybdenum-dependent enzymes. To date, no... more
REVIEWS: In Medicine, Health Care and Philosophy: http://www.springerlink.com/content/44275q410286r7q1/ ABSTRACT Medical or health-oriented screening programs are amongst the most debated aspects of health care and public health... more
"Background: Topiramate and zonisamide are used as anticonvulsant medications in children, and Topiramate is also used for migraine prophylaxis. There are reports of topiramate and zonisamide causing oligohydrosis as a side-effect (Clin... more
Dépistage néonatal de la Drépanocytose en France Pertinence d'une généralisation du dépistage à l'ensemble des nouveaux-nés A systematic newborn screening program for SCD has been established since 1985 in the French overseas... more
In Taiwan, during the period March 2000 to June 2009, 1,495,132 neonates were screened for phenylketonuria (PKU) and homocystinuria (HCU), and 1,321,123 neonates were screened for maple syrup urine disease (MSUD), methylmalonic academia... more
Objectives Many newborn screening (NBS) programs across the world recently celebrated 50 years of important health benefits for babies affected with rare diseases. Though, the impact of false-positive NBS on health services use (HSU)... more
Restoration of urine samples in NBS; possibilities in the detection of inborn errors of metabolism; step prior to the use of the "Ion Torrent" Genetic Sequencer. Inclusion of more R D. Urine samples impregnated on paper in NBS for LSD and... more
Methylmalonic acidemia (MMA) is a severe metabolic disorder, particularly with complete deficiency of methylmalonyl-CoA mutase. Dietary restriction has led to overt signs of deficiencies including skin rashes, hair loss, and poor growth.... more
For many years, pre-analytical variables were only inappropriately considered in the field of dried blood spots (DBS)testing and even today, with the exception of newborn screening, the entire pre-analytical phase, which comprises the... more