Articles by author - Mária Fischerová

Differing clinical presentations of two unrelated cases of X-linked adrenoleukodystrophy with identical mutation Y296C in the ABCD1 gene.

Sutovský S, Kolníková M, Petrovic R, Kollár B, Siarnik P, Chandoga J, Fischerová M, Turcáni P.

Case Reports 2014; 35(5): 411-416 PubMed PMID: 25275259  Keywords:  ATP-Binding Cassette Transporters:genetics, Adolescent, Adrenal Insufficiency:diagnosis, Adrenoleukodystrophy:diagnosis, Amino Acid Sequence, Base Sequence, Brain:pathology, Cognition Disorders:diagnosis, Humans, Magnetic Resonance Imaging, Male, Middle A.    Citation

OBJECTIVES: X-linked adrenoleukodystrophy is a genetically determined disorder that causes varying degrees of malfunction of the adrenal c.....

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