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Author/Creator Jesina, Pavel

1. A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C). Issue 1 (December 2016)

Authors:
Pineda, Mercedes; Mengel, Eugen; Jahnová, Helena; Héron, Bénédicte; Imrie, Jackie; Lourenço, Charles; van der Linden, Vanessa; Karimzadeh, Parvaneh; Valayannopoulos, Vassili; Jesina, Pavel; Torres, Juan; Kolb, Stefan
Journal:
BMC pediatrics
Issue:
Volume 16:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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2. Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency. Issue 3 (2nd November 2020)

Authors:
Marelli, Cecilia; Lavigne, Christian; Stepien, Karolina M.; Janssen, Mirian C. H.; Feillet, Francois; Kožich, Viktor; Jesina, Pavel; Schule, Rebecca; Kessler, Christoph; Redonnet‐Vernhet, Isabelle; Regnier, Adeline; Burda, Patricie; Baumgartner, Matthias; Benoist, Jean‐Francois; Huemer, Martina; ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 3(2021)
Page Start:
777
Record Type:
Journal Article
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3. NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease. Issue 10 (22nd August 2020)

Authors:
Jedlickova, Ivana; Pristoupilova, Anna; Hulkova, Helena; Vrbacka, Alena; Stranecky, Viktor; Hruba, Eva; Jesina, Pavel; Honzik, Tomas; Hrdlicka, Ivan; Fremuth, Jiri; Pivovarcikova, Kristyna; Bitar, Ibrahim; Matej, Radoslav; Kmoch, Stanislav; Sikora, Jakub
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 79:Issue 10(2020)
Page Start:
1065
Record Type:
Journal Article
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4. Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry. Issue 2 (17th February 2019)

Authors:
Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A.; Seifert, Burkhardt; Froese, D. Sean; Baumgartner, Matthias R.; Dionisi‐Vici, Carlo; Martin, Carlos Alcalde; Baethmann, Martina; Ballhausen, Diana;...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 2(2019)
Page Start:
333
Record Type:
Journal Article
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