ISSN: 0172-780X | ISSN-L: 0172-780X | eISSN 2354-4716

www.nel.edu Editor-in-Chief: Peter G. Fedor-Freybergh

Articles by author - Tomas Honzik

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.

Ondruskova N, Honzik T, Vondrackova A, Tesarova M, Zeman J, Hansikova H.

Case Reports 2014; 35(2): 137-141 PubMed PMID: 24878975 Keywords: Central Nervous System:physiopathology, Child, Glycogen Storage Disease:complications, Humans, Intellectual Disability:complications, Male, Microcephaly:complications, Mutation, Missense, Phenotype, Phosphoglucomutase:genetics,.

OBJECTIVES: A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, hypog.....

Read abstract Full text PDF

X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.

Zemanova M, Chrastina P, Dvorakova L, Reboun M, Vlaskova H, Jahnova H, El-Lababidi N, Cepova J, Honzik T, Zeman J.

Journal Article 2021; 42(5): 359-367 PubMed PMID: 34506099

OBJECTIVES: X-linked adrenoleukodystrophy (X-ALD) causes cerebral adrenoleukodystrophy (cALD), myelopathy and/or adrenal insufficiency in .....