Dariusz Rokicki - Concepedia

Author

Dariusz Rokicki

Children's Memorial Health Institute ORCID

Also Known As

D ROKICKI, D Rokicki, D. Rokicki, Dariusz MD Rokicki, Dariusz Rokicki, Esmeralda Rodrigues, Rokicki, Dariusz

Publications

1.7K

Citations

H-Index

Concepts

All Affiliations

Children's Memorial Health Institute Medical University of Warsaw Paracelsus Medical University Technical University of Munich Helmholtz Zentrum München

About

Dariusz Rokicki is an author at Children's Memorial Health Institute specializing in medicine, pathology, and inherited metabolic disease.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	17	558
2	Health Sciences	3	3	88
3	Natural Sciences	1	1	15
4	Public Health	1	1	13
5	Social Sciences	1	1	42

Dariusz Rokicki

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre Ewa Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara, Journal of Translational Medicine	2016	226
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood Laura S. Kremer, Katharina Danhauser, Diran Herebıan, The American Journal of Human Genetics Developmental BiologyGenetic DisorderGeneticsDegenerative DiseaseNeurogenetics	2016	97
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases Ewa Pronicka, Elżbieta Ciara, Paulina Halat, Journal of Applied Genetics	2017	92
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Birgit Repp, Elisa Mastantuono, Charlotte L. Alston, Orphanet Journal of Rare Diseases	2018	79
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype Charlotte L. Alston, Alison G. Compton, Luke E. Formosa, The American Journal of Human Genetics	2016	69
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency Martina Huemer, Regina Mulder‐Bleile, Patricie Burda, Journal of Inherited Metabolic Disease	2015	61
Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors Julie Deuquet, Ekkehart Lausch, Nicolas Guex, EMBO Molecular Medicine Proteasome InhibitorsHyaline Fibromatosis SyndromeImmunologyPathologyMatrix Biology	2011	59
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy Dorota Piekutowska‐Abramczuk, Zahra Assouline, Lavinija Mataković, The American Journal of Human Genetics Mitochondrial MyopathyMitochondrial BiogenesisMitochondrial FunctionLeigh-like EncephalomyopathyGenetic Disorder	2018	58
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Piekutowska‐Abramczuk, European Journal of Paediatric Neurology Developmental BiologySignal TransductionMolecular PhysiologyGenetic DisorderMendelian Disorder	2016	49
Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia Ewa Pronicka, Maciej Adamowicz, Agnieszka Kowalik, Pediatric Research Carbohydrate-deficient TransferrinNutritionMetabolic SyndromeFood IntoleranceMetabolic Disorder	2007	46

Page 1