Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

scientific article published on 3 September 2015

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/S0140-6736(15)00124-5
P698PubMed publication ID26343839
P5875ResearchGate publication ID281588426

P50authorJohn ChristodoulouQ42753915
Abdel A. BelaidiQ58463859
Guenter SchwarzQ64153769
Saikat SantraQ75839846
Terry G J DerksQ79762072
P2093author name stringElisabeth Jameson
Alex Veldman
Evangeline Wassmer
Bernd C Schwahn
Julia B Hennermann
Flora Y Wong
Kai König
Anne Vierzig
Mamta Vaidya
Tracy L McGregor
Esperanza Font-Montgomery
Francjan J Van Spronsen
Ilona Weis
José A Santamaria-Araujo
Stephen Bowhay
P2860cites workGenomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type AQ22008723
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type BQ22008844
Mutations in the molybdenum cofactor biosynthetic genesMOCS1, MOCS2, andGEPHQ24302091
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthaseQ24307832
Molybdenum cofactor biosynthesis and deficiencyQ33991147
Molybdenum cofactors, enzymes and pathwaysQ34018919
The tetrahydropyranopterin structure of the sulfur-free and metal-free molybdenum cofactor precursorQ34294783
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coliQ34317217
Molybdenum cofactor deficiency: clinical features in a Turkish patientQ34589252
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2Q37804739
Prenatal brain disruption in molybdenum cofactor deficiencyQ41935800
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serumQ42097491
Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiencyQ42274382
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiencyQ42576777
Successful treatment of molybdenum cofactor deficiency type A with cPMP.Q43102443
Molybdenum cofactor deficiency associated with Dandy-Walker complexQ43807530
Clinical neuroimaging features and outcome in molybdenum cofactor deficiencyQ48906574
Timing of cerebral developmental disruption in molybdenum cofactor deficiency.Q49027698
Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.Q54023912
Structure and stability of the molybdenum cofactor intermediate cyclic pyranopterin monophosphateQ84855093
P433issue10007
P407language of work or nameEnglishQ1860
P921main subjectmolybdenum cofactor deficiencyQ1621463
molybdenum cofactor deficiency type AQ50349830
P304page(s)1955-1963
P577publication date2015-09-03
P1433published inThe LancetQ939416
P1476titleEfficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study
P478volume386

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