0000000000519504

AUTHOR

Alex Veldman

showing 2 related works from this author

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

2015

Summary Background Molybdenum cofactor deficiency (MoCD) is characterised by early, rapidly progressive postnatal encephalopathy and intractable seizures, leading to severe disability and early death. Previous treatment attempts have been unsuccessful. After a pioneering single treatment we now report the outcome of the complete first cohort of patients receiving substitution treatment with cyclic pyranopterin monophosphate (cPMP), a biosynthetic precursor of the cofactor. Methods In this observational prospective cohort study, newborn babies with clinical and biochemical evidence of MoCD were admitted to a compassionate-use programme at the request of their treating physicians. Intravenous…

Compassionate Use TrialsMalePediatricsmedicine.medical_specialtyGENOMIC STRUCTUREFEATURESEncephalopathyMolybdopterin synthaseCyclic pyranopterin monophosphateDrug Administration ScheduleCohort Studieschemistry.chemical_compoundOrganophosphorus CompoundsmedicineURINEHumansBIOSYNTHESISProspective cohort studyAdverse effectMolybdenum cofactor deficiencyPRECURSORMetal Metabolism Inborn ErrorsMetal metabolismbusiness.industryMUTATIONSInfant NewbornGENES MOCS1CPMPMOLYBDOPTERIN SYNTHASEGeneral Medicinemedicine.diseasePterinsTreatment OutcomechemistryFemalebusinessCohort studyLancet (London, England)
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Changing the Mindset in Life Sciences Toward Translation: A Consensus

2014

Participants at the recent Translate! 2014 meeting in Berlin, Germany, reached a consensus on the rate-limiting factor for advancing translational medicine.

medicine.medical_specialtyConsensusbusiness.industryInternational CooperationAlternative medicineMEDLINETranslational medicineMindsetGeneral MedicineBiological Science DisciplineshumanitiesBiological Science DisciplinesTranslational Research BiomedicalResearch Support as TopicmedicineHumansEngineering ethicsbusinesshuman activitiesScience Translational Medicine
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