Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic.
OBJECTIVE: To present the case of a term newborn with rapid progression of signs of neurodegenerative disease.
RESULTS:.....
Brucknerova I, Behulova D, Bzduch V, Mach M, Dubovicky M, Ujhazy E.
Case Reports 2010; 31(Suppl 2): 5-7 PubMed PMID: 21187823 Keywords: Disease Progression, Fatal Outcome, Humans, Incidence, Infant, Newborn, Male, Metal Metabolism, Inborn Errors:complications, Molybdoferredoxin, Neurodegenerative Diseases:diagnosis, Slovakia:epidemiology,. CitationOBJECTIVE: To present the case of a term newborn with rapid progression of signs of neurodegenerative disease.
RESULTS:.....
Brucknerova I, Behulova D, Bzduch V, Mach M, Dubovicky M, Ujhazy E. Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic. Neuro Endocrinol Lett. 2010 Jan; 31(Suppl 2): 5-7
Gáspárová Z, Snirc V, Stolc S, Dubovický M, Mach M, Ujházy E.
Journal Article 2010; 31(3): 348-352 PubMed PMID: 20588238 Keywords: Action Potentials:drug effects, Animals, Antioxidants:therapeutic use, Brain Ischemia:prevention & control, Female, Hippocampus:drug effects, In Vitro Techniques, Indoles:therapeutic use, Lactation, Pregnancy, Pregnancy Complications, Cardiovascular:drug . CitationOBJECTIVE: Damage to the developing brain may be caused by maternal environment, nutritional deficiencies, failure of protective mechanism.....
Gáspárová Z, Snirc V, Stolc S, Dubovický M, Mach M, Ujházy E. Maternal treatment of rats with the new pyridoindole antioxidant during pregnacy and lactation resulting in improved offspring hippocampal resistance to ischemia in vitro. Neuro Endocrinol Lett. 2010 Jan; 31(3): 348-352
Gáspárová Z, Janega P, Babál P, Snirc V, Stolc S, Mach M, Ujházy E.
Journal Article 2009; 30(5): 574-581 PubMed PMID: 20035262 Keywords: Animals, Antioxidants:pharmacology, Brain Ischemia:drug therapy, Edema:drug therapy, Electrophysiology, Female, Hippocampus:cytology, Humans, Indoles:pharmacology, Male, Neuroprotective Agents:pharmacology, Pyridines:pharmacology, Rats, Rats, Wistar,. CitationOBJECTIVES: The idea of neuroprotective therapy for ischaemic stroke is based on results from studies on experimental animal models of bra.....
Gáspárová Z, Janega P, Babál P, Snirc V, Stolc S, Mach M, Ujházy E. Effect of the new pyridoindole antioxidant SMe1EC2 on functional deficits and oedema formation in rat hippocampus exposed to ischaemia in vitro. Neuro Endocrinol Lett. 2009 Jan; 30(5): 574-581
Brucknerova I, Behulova D, Sebova C, Bzduch V, Mach M, Dubovicky M, Ujhazy E.
Case Reports 2009; 30(Suppl 1): 29-31 PubMed PMID: 20027140 Keywords: Diagnosis, Differential, Humans, Hyperbilirubinemia, Neonatal:diagnosis, Infant, Newborn, Male, Mevalonate Kinase Deficiency:complications,. CitationOBJECTIVES: To present clinical and laboratory findings in the case of a term newborn with conjugated hyperbilirubinaemia and to stress th.....
Brucknerova I, Behulova D, Sebova C, Bzduch V, Mach M, Dubovicky M, Ujhazy E. Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn. Neuro Endocrinol Lett. 2009 Jan; 30(Suppl 1): 29-31
Ujhazy E, Dubovicky M, Ponechalova V, Navarova J, Brucknerova I, Snirc V, Mach M.
Journal Article 2008; 29(5): 639-643 PubMed PMID: 18987587 Keywords: Abnormalities, Drug-Induced:pathology, Animals, Antioxidants:toxicity, Female, Fetal Development:drug effects, Fetal Diseases:chemically induced, Indoles:toxicity, Neuroprotective Agents:toxicity, Pregnancy, Pyridines:toxicity, Rats, Rats, Wistar, Reprodu. CitationOBJECTIVE: The 2-ethoxycarbonyl-8-methoxy-2,3,4,4a,5,9b-hexahydro-1H-pyrido-[4,3b] indolinium chloride (SMe1EC2) is a prospective antioxid.....
Ujhazy E, Dubovicky M, Ponechalova V, Navarova J, Brucknerova I, Snirc V, Mach M. Prenatal developmental toxicity study of the pyridoindole antioxidant SMe1EC2 in rats. Neuro Endocrinol Lett. 2008 Oct; 29(5): 639-643
Brucknerova I, Bzduch V, Behulova D, Ferianec V, Dubovicky M, Ujhazy E, Mach M.
Case Reports 2008; 29(5): 627-630 PubMed PMID: 18987586 Keywords: Asphyxia Neonatorum:enzymology, Cardiopulmonary Resuscitation, Carnitine O-Palmitoyltransferase:deficiency, Heart Failure:etiology, Humans, Infant, Newborn, Male, Respiratory Insufficiency:etiology, Tandem Mass Spectrometry,. CitationOBJECTIVES: To present a term newborn with severe asphyxial status due to dysrrhythmia induced by the neonatal form of carnitine palmitoyl.....
Brucknerova I, Bzduch V, Behulova D, Ferianec V, Dubovicky M, Ujhazy E, Mach M. Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency. Neuro Endocrinol Lett. 2008 Oct; 29(5): 627-630