Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency

Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications

(2013) F. Weidemann et al.   JOURNAL OF INTERNAL MEDICINE

Favorable Outcome in a Newborn With Molybdenum Cofactor Type A Deficiency Treated With cPMP

(2012) M. M. Hitzert et al.   PEDIATRICS

Timing of Cerebral Developmental Disruption in Molybdenum Cofactor Deficiency

(2011) Alex Veldman et al.   JOURNAL OF CHILD NEUROLOGY

Natural History of Infantile GM2 Gangliosidosis

(2011) A. E. Bley et al.   PEDIATRICS

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2

(2010) Jochen Reiss et al.   HUMAN MUTATION

Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP

(2010) A. Veldman et al.   PEDIATRICS

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency

(2009) M. Arenas et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

(2009) A Mehta et al.   LANCET