Results 31 to 40 of about 564,598 (106)
, 2023 BackgroundMolybdenum cofactor deficiency (MoCD) (OMIM# 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway.ObjectivesWe report a milder phenotype in a patient with ...
Suzanne Ratko +13 more
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Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP [PDF]
, 2012 Molybdenum cofactor deficiency (MoCD) is a lethal autosomal recessive inborn error of metabolism with devastating neurologic manifestations. Currently, experimental treatment with cyclic pyranopterin monophosphate (cPMP) is available for patients with ...
Heiner-Fokkema, Rebecca +13 more
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Indian Pediatrics Case ReportsBackground: Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive inborn error of metabolism causing deficiency in molybdenum-dependent enzymes, leading to accumulation of toxic metabolites such as sulfite, resulting in severe neurological ...
Pradeep Kumar Sanga +3 more
doaj +1 more source
State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases
CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1743-1759, November 2025.ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna +4 more
wiley +1 more source
Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby
, 2015 Background: Molybdenum cofactor deficiency (MOCD) is a severe autosomal recessive neonatal metabolic disease that causes seizures and death or severe brain damage.
Allgood, Catherine (R17910) +7 more
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Molybdenum-Cofactor Deficiency and Seizures
, 1993 The clinical, biochemical, and neuropathological findings in two neonates with molybdenum-cofactor deficiency presenting with convulsions are reported from the Academic Medical Center, Amsterdam, The ...
J Gordon Millichap, Millichap, J. Gordon
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Late-Onset Molybdenum Cofactor Deficiency Type A:A Treatable Cause of Developmental Delay
Subjects:Developmental/Behavioral Health, Genetics, Growth/Development MilestonesTopics:combined molybdoflavoprotein enzyme deficiency, developmental delay, fosdenopterin, xanthine, creatinine, uric acid, hypoxanthine, genesMolybdenum cofactor deficiency
Lund, Allan M. +6 more
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Molybdenum cofactor deficiency: Neuroimaging findings
, 2018 Molybdenum cofactor deficiency is an extremely rare and fatal metabolic disorder that should be considered in the differential diagnosis of hypoxic-ischemic encephalopathy. Magnetic resonance imaging findings are useful in diagnosis.
Bora Özbakır, PhD +1 more
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Early Neuroimaging in Molybdenum Cofactor Deficiency
, 2014 Investigators at Wakayama Medical University, Japan, report the neuroimaging features soon after birth in 2 siblings with molybdenum cofactor deficiency (MoCoD) type ...
John J Millichap +3 more
core +1 more source
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
, 2010 International audienceAll molybdenum-containing enzymes other than the bacterial nitrogenase share an identical molybdenum cofactor (MoCo), which is synthesized via a conserved pathway in all organisms and therefore also is called "universal molybdenum ...
Jochen Reiss +3 more
core +1 more source