D. Behulova
Boston Children's Hospital
31 Papers
176 Citations
D. Behulova is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Smith–Lemli–Opitz syndrome & Mutation (genetic algorithm). The author has an hindex of 7, co-authored 29 publications.
Chat about Author
Papers
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
Hana Janečková,Karel Hron,Petr Wojtowicz,Eva Hlídková,Anna Barešová,David Friedecký,Lenka Žídková,Petr Hornik,D. Behulova,Dagmar Procházková,Hana Vinohradská,Karolína Pešková,Per Bruheim,Vratislav Smolka,Sylvie Šťastná,Tomáš Adam +15 more
TL;DR: This study has revealed that targeted metabolomic tools with automated and unsupervised processing can be applied for the diagnosis of various IMDs.
59
Transient hyperphosphatasemia of infancy and childhood: study of 194 cases
TL;DR: The hyperphosphatasemia was discovered fortuitously during routine investigations in outpatient and inpatient departments of a children’s hospital with a capacity of 500 beds during a period of 8 years (1992–1999).
44
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia
Jana Lisyová,Ján Chandoga,Petra Jungová,Marcel Repiský,Mária Knapková,Martina Machková,Svetozár Dluholucký,D. Behulova,Jana Saligová,Ľudmila Potočňáková,Miroslava Lysinová,Daniel Böhmer +11 more
TL;DR: A molecular genetic study on sixty-two patients with a pathological biochemical pattern related to short-chain acyl-CoA dehydrogenase deficiency discovered a high occurrence of two rare pathogenic variants, one of which appears with a high frequency in the Roma ethnic group of Slovakia.
Simultaneous analysis of carbohydrates, polyols and amines in urine samples using chemical ionization gas chromatography with tandem mass spectrometry
Róbert Kubinec,Peter Kotora,Viktória Ferenczy,Viktória Ferenczy,Jaroslav Blaško,Peter Podolec,Alexandra Hengerics Szabó,D. Behulova,Václav Matěj Bierhanzl,Radomír Čabala,Stanislav Stuchlík,Wojciech Filipiak,Ngô Mạnh Thắng +12 more
TL;DR: A simple method for the simultaneous derivatization of carbohydrates, polyols, amines and amino acids using hexamethyldisilazane and N,O-bis(trimethylsilyl)trifluoroacetamide was developed and was successfully used for analysis of the selected metabolites in urine samples of healthy individuals and neonates suffering from galactosemia.
15