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  1. No Access

    Article

    Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

    X-linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter (CTP) encoded by the SLC6A8 gene.

    Vassili Valayannopoulos, Nathalie Boddaert… in Journal of Inherited Metabolic Disease (2012)

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    Article

    Antenatal manifestations of inborn errors of metabolism: biological diagnosis

    Inborn errors of metabolism (IEMs) that present with abnormal imaging findings in the second half of pregnancy are mainly lysosomal storage disorders (LSDs), cholesterol synthesis disorders (CSDs), glycogen st...

    Christine Vianey-Saban, Cécile Acquaviva… in Journal of Inherited Metabolic Disease (2016)

  3. No Access

    Article

    Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

    Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of ...

    Monique Piraud, Magali Pettazzoni, Pamela Lavoie… in Journal of Inherited Metabolic Disease (2018)