|1|Treatments for rare diseases: molybdenum cofactor deficiency. (26343841)
|2|Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. (25764214)
Mechler K.... Ries M.
|3|Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby. (25709896)
Edwards M.... Whitehall J.
|4|Choice of anesthesia in molybdenum cofactor deficiency: A case report. (25657759)
Alkan M.... Atabek D.
|5|Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. (24379235)
Higuchi R.... Yoshikawa N.
|6|Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. (23250031)
Stence N.V.... Thomas J.A.
|7|The association of molybdenum cofactor deficiency and pyloric stenosis. (23128059)
Tezel G.... OygA1r N.
|8|Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. (22403017)
Mills P.B.... Struys E.A.
|9|Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. (23147983)
Struys E.A.... Tabarki B.
|10|Prenatal brain disruption in molybdenum cofactor deficiency. (21285035)
Carmi-Nawi N.... Lev D.
|11|Successful treatment of molybdenum cofactor deficiency type A with cPMP. (20385644)
Veldman A.... Schwarz G.
|12|Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency. (20865336)
Sie S.D.... Peeters-Scholte C.M.
|13|Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic. (21187823)
Brucknerova I.... Ujhazy E.
|14|AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model. (19538746)
Hahnewald R.... Reiss J.
|15|Molybdenum cofactor deficiency in a Malaysian child. (19907877)
Ngu L.H.... Zabedah M.Y.
|16|Crystal structure of a molybdopterin synthase-precursor Z complex: insight into its sulfur transfer mechanism and its role in molybdenum cofactor deficiency. (18092812)
Daniels J.N.... Schindelin H.
|17|Molybdenum cofactor deficiency: clinical features in a Turkish patient. (17158010)
Per H.... KumandaA9 S.
|18|Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. (17704913)
Serrano M.... GarcA-a-Cazorla A.
|19|Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. (16429380)
Macaya A.... Cormand B.
|20|Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. (15794186)
Teksam O.... Coskun T.
|21|Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans. (15317939)
HAonzelmann P.... Schindelin H.
|22|Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. (15115759)
Schwarz G.... Reiss J.
|23|Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. (12872846)
Sass J.O.... Sperl W.
|24|Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. (12732628)
Leimkuehler S.... Mendel R.R.
|25|New insights into the neuropathogenesis of molybdenum cofactor deficiency. (11858544)
Salman M.S.... Becker L.
|26|Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. (11746050)
Johnson J.L.... Boneh A.
|27|A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (11095995)
Reiss J.... Schwarz G.
|28|Diagnosis of molybdenum cofactor deficiency. (10030363)
Simmonds H.A.... van Gennip A.H.
|29|In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency. (10552066)
Salvan A.M.... Vion-Dury J.
|30|Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. (10053004)
Reiss J.... Zabot M.-T.
|31|Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. (9634514)
Shalata A.... Cohen N.
|32|Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. (9921896)
Reiss J.P.... Dorche C.
|33|Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. (9731530)
Reiss J.P.... Dierks T.
|34|Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant. (9459218)
Hughes E.F.... Robinson R.O.
|35|Hypouricemia and molybdenum-cofactor deficiency. (9003869)
YurdakAPk M.... CoA9kun T.
|36|Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies. (8812740)
Blau N.... Duran M.
|37|Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. (8976115)
Sumi S.... Wada Y.
|38|CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. (8938304)
Appignani B.A.... Wolpert S.M.
|39|Dextromethorphan in molybdenum cofactor deficiency. (8741046)
Kurlemann G.... Schuierer G.
|40|Molybdenum-cofactor deficiency: CT and MR findings. (7791952)
Schuierer G.... Stephani U.
|41|Molybdenum cofactor deficiency associated with Dandy-Walker malformation. (7623453)
Pintos-Morell G.... Rajagopalan K.V.
|42|Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. (7474893)
Mize C.... Rajagopalan K.V.
|43|Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. (8531042)
Lueder G.T.... Steiner R.D.
|44|Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. (7660932)
van Gennip A.H.... van Cruchten A.G.
|45|The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile. (8051926)
van Gennip A.H.... Bakker H.D.
|46|Short-term response to dietary therapy in molybdenum cofactor deficiency. (7694543)
Boles R.G.... Rinaldo P.
|47|Molybdenum cofactor deficiency in two siblings: diagnostic difficulties. (8404970)
Hansen L.K.... Christensen E.
|48|Biochemical investigation of a child with molybdenum cofactor deficiency. (2289312)
Bamforth F.J.... Applegarth D.A.
|49|Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase. (3219233)
Johnson J.L.... Shih V.E.
|50|Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. (3215199)
Endres W.... Wadman S.K.