Results 91 to 97 of about 3,012 (97)

Molybdenum cofactor deficiency in two siblings: Diagnostic difficulties

European Journal of Pediatrics, 1993
C Dorche, L K Hansen
exaly  

Molybdenum-Cofactor Deficiency: CT and MR Findings

Neuropediatrics, 1995
U Stephani
exaly  

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

Genetics in Medicine, 2015
Markus Ries, Georg Friedrich Hoffmann, Konstantin Mechler   +2 more
exaly  

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

Human Mutation, 2011
Rita Hahnewald
exaly  

Investigation of molybdenum cofactor deficiency due to deficiency in a newborn baby

Meta Gene, 2015
Matthew Edwards, Guenter Schwarz, Flora Y Wong   +2 more
exaly  

Molybdenum cofactor deficiency associated with Dandy–Walker complex

Brain and Development, 2001
Damla Gökşen, Şükran Darcan, Mehmet Yalaz   +2 more
exaly  

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

Journal of Inherited Metabolic Disease
Albert L Misko, Ronen Spiegel, Guenter Schwarz   +2 more
exaly