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

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Atul Mehta, Michael Beck, Perry Elliott et al. · The Lancet · 2009 · 273 citations · Full text

Life Sciences, Pharmacotherapy, Enzymology +5

Long‐term outcome of enzyme‐replacement therapy in advanced <scp>F</scp>abry disease: evidence for disease progression towards serious complications

Frank Weidemann, Markus Niemann, Stefan Störk et al. · Journal of Internal Medicine · 2013 · 218 citations · Full text

Medicine, Internal Medicine, Nephrology +10

Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP

Alex Veldman, José Angel Santamaria‐Araujo, Silvio Sollazzo et al. · PEDIATRICS · 2010 · 200 citations

Life Sciences, Neurology, Pharmacotherapy +14

Natural History of Infantile GM2 Gangliosidosis

Annette Bley, Ourania Giannikopoulos, Doug Hayden et al. · PEDIATRICS · 2011 · 167 citations · Full text

Medicine, Neurology, Pediatrics +16

Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli

Günter Schwarz · Human Molecular Genetics · 2004 · 97 citations

Life Sciences, Biochemistry, Genetics +16