|1.||Ichida, Kimiyoshi: 3 articles (08/2012 - 09/2010)|
|2.||Sass, Jörn Oliver: 3 articles (08/2010 - 11/2002)|
|3.||Schwarz, Guenter: 2 articles (02/2015 - 10/2012)|
|4.||Reiss, Jochen: 2 articles (08/2010 - 01/2009)|
|5.||Coskun, T: 2 articles (01/2006 - 04/2001)|
|6.||Shimizu, Akira: 2 articles (03/2004 - 11/2002)|
|7.||Nakanishi, Toyofumi: 2 articles (03/2004 - 11/2002)|
|8.||Sun, Qin: 1 article (01/2016)|
|9.||Ries, Markus: 1 article (12/2015)|
|10.||Mechler, Konstantin: 1 article (12/2015)|
02/01/1995 - "The CT (3 patients) and/or MR studies (3 patients) of 4 children, which became symptomatic with intractable seizures within the first days after birth and finally turned out to have molybdenum cofactor deficiency, were reviewed. "
11/01/2012 - "Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive disorder that may present during the neonatal period with intractable seizures. "
12/01/2001 - "Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. "
11/22/2001 - "Molybdenum cofactor deficiency is a rare inborn error of metabolism with generally severe symptoms, most often including neonatal seizures and severe developmental delay. "
12/01/1996 - "Patients with molybdenum cofactor deficiency display severe neurological symptoms, such as severe convulsions. "
|2.||Metabolic Diseases (Metabolic Disease)
01/01/2009 - "AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model."
01/01/2009 - "In a mouse model for molybdenum cofactor deficiency as an example for an inherited metabolic disease we have determined the dosage of recombinant AAV necessary to rescue the lethal deficiency phenotype. "
02/01/2015 - "Molybdenum cofactor deficiency (MOCD) is a severe autosomal recessive neonatal metabolic disease that causes seizures and death or severe brain damage. "
03/01/2004 - "Molybdenum cofactor deficiency (resulting in combined deficiencies of the enzymes sulphite oxidase, xanthine dehydrogenase and aldehyde dehydrogenase) and isolated sulphite oxidase deficiency are inherited metabolic diseases which follow an autosomal recessive trait of inheritance. "
|3.||Dandy-Walker Syndrome (Dandy Walker Malformation)
12/01/2001 - "We present here a new case of Molybdenum cofactor deficiency associated with Dandy-Walker complex with a history of three dead siblings, the latter also having Dandy-Walker malformation. "
01/01/1995 - "Molybdenum cofactor deficiency associated with Dandy-Walker malformation."
02/01/2005 - "We report here a newborn with molybdenum cofactor deficiency-associated Dandy-Walker malformation who presented with severe lactic acidosis and intracranial hemorrhage."
06/01/2014 - "Primary conditions include chromosomal aberrations (e.g., trisomy 13 and 18), metabolic disorders (e.g., molybdenum cofactor deficiency, Smith-Lemli-Opitz syndrome, and adenylosuccinase deficiency), genetic syndromes (e.g., Ritscher-Schinzel, Joubert, and CHARGE syndromes), and brain malformations (primary posterior fossa malformations e.g., Dandy-Walker malformation, pontine tegmental cap dysplasia and rhombencephalosynapsis, or global brain malformations such as tubulinopathies and α-dystroglycanopathies). "
|4.||Dihydropyrimidine Dehydrogenase Deficiency
04/01/2000 - "The expected abnormalities were easily found in samples from patients with purine nucleoside phosphorylase deficiency, ornithine transcarbamylase deficiency, molybdenum cofactor deficiency, adenylosuccinase deficiency, or dihydropyrimidine dehydrogenase deficiency. "
01/01/2014 - "In the last thirteen years, we have studied urine/plasma specimens from about 1600 patients and we have identified 35 patients: eight patients with adenylosuccinate lyase deficiency, eight patients with hypoxanthine-guanine phosphoribosyltransferase deficiency, one patient with purine nucleoside phosphorylase deficiency, ten patients with xanthine dehydrogenase deficiency, six patients with molybdenum cofactor deficiency and two patients with dihydropyrimidine dehydrogenase deficiency. "
|5.||Brain Hypoxia-Ischemia (Hypoxia Ischemia, Brain)
04/01/2001 - "Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy."
08/01/2012 - "Clinical features of molybdenum cofactor deficiency, e.g., neonatal seizures, hypertonus/hypotonus, and feeding and respiratory difficulties, resemble those of neonatal hypoxic-ischemic encephalopathy. "
04/01/2001 - "We conclude that molybdenum cofactor deficiency must be included in the differential diagnosis of patients presenting with intractable seizures in the newborn period who have computed tomography and magnetic resonance imaging findings reminiscent of those of hypoxic-ischemic encephalopathy, and the urine sulfite dipstick test can be a part of the evaluation of these infants in neonatal intensive care units."
|3.||Adenylosuccinate lyase deficiency
|6.||Sulfite oxidase deficiency
|7.||Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)