Joanna Taybert - Concepedia

Author

Joanna Taybert

Children's Memorial Health Institute ORCID

Also Known As

J Taybert, J. Taybert, Joanna Taybert

Publications

437

Citations

H-Index

Concepts

All Affiliations

Children's Memorial Health Institute Amsterdam UMC Location Vrije Universiteit Amsterdam Sheffield Children's NHS Foundation Trust

About

Joanna Taybert is an author at Children's Memorial Health Institute specializing in medicine, molecular genetics, and inherited metabolic disease.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	88
2	Molecular Genetics	2	2	51
3	Pathology	2	2	55
4	Genetics	2	2	51
5	Genetic Epidemiology	1	1	18

Joanna Taybert

Publications

402

Citations

H-Index

Page 1

	Year	Citations
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome Christiaan P. Sentner, Irene J. Hoogeveen, David A. Weinstein, Journal of Inherited Metabolic Disease	2016	165
High frequency of missense mutations in glycogen storage disease type VI Nicholas Beauchamp, Joanna Taybert, M. P. Champion, Journal of Inherited Metabolic Disease	2007	56
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure Ewa Pronicka, Anna Węglewska-Jurkiewicz, Joanna Taybert, Journal of Applied Genetics	2010	52
Transaldolase deficiency in two new patients with a relative mild phenotype Anna Tylki‐Szymańska, Teresa Joanna Stradomska, Mirjam M. C. Wamelink, Molecular Genetics and Metabolism UrologyNew PatientsInherited Metabolic DiseasePathologyTransaldolase Deficiency	2009	37
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency Maciej Pronicki, Paweł Kowalski, Dorota Piekutowska‐Abramczuk, European Journal of Paediatric Neurology Rare DiseasesGenetic DisorderMedicineGeneticsHomozygous Mutation	2009	33
Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates Ewa Pronicka, D. H. Piekutowska‐Abramczuk, Ewa Popowska, Journal of Inherited Metabolic Disease	2001	21
Clinical and molecular characteristics of two transaldolase-deficient patients Anna Tylki‐Szymańska, Mirjam M. C. Wamelink, Teresa Joanna Stradomska, European Journal of Pediatrics	2014	20
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis Christina Hellerud, Maciej Adamowicz, Dorota Jurkiewicz, Molecular Genetics and Metabolism Somatic VariantGenetic DisorderMedicineGeneticsInherited Metabolic Disease	2003	18

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