Articles by author - Regina Lohajová Behulová

Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic.

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,.    Citation

OBJECTIVE: To present the case of a term newborn with rapid progression of signs of neurodegenerative disease.

RESULTS:.....

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Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn.

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,.    Citation

OBJECTIVES: To present clinical and laboratory findings in the case of a term newborn with conjugated hyperbilirubinaemia and to stress th.....

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Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency.

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,.    Citation

OBJECTIVES: To present a term newborn with severe asphyxial status due to dysrrhythmia induced by the neonatal form of carnitine palmitoyl.....

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