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Items: 7

1.

Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.

Szczepanik E, Terczyńska I, Kruk M, Lipiec A, Dudko E, Tryfon J, Jurek M, Hoffman-Zacharska D.

Dev Period Med. 2015 Oct-Dec;19(4):454-63. Review.

2.

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

Szymańska K, Szczałuba K, Lugowska A, Obersztyn E, Radkowski M, Nowakowska BA, Kuśmierska K, Tryfon J, Demkow U.

Biomed Res Int. 2014;2014:424796. doi: 10.1155/2014/424796. Epub 2014 May 13.

3.

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

Szczałuba K, Mierzewska H, Obersztyn E, Tryfon J, Bekiesińska-Figatowska M, Szczepanik E, Chrzanowska K, Bocian E.

J Appl Genet. 2012 May;53(2):189-91. doi: 10.1007/s13353-012-0084-2. No abstract available.

PMID:
22293976
4.

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

Derwińska K, Mierzewska H, Goszczańska A, Szczepanik E, Xia Z, Kuśmierska K, Tryfon J, Kutkowska-Kaźmierczak A, Bocian E, Mazurczak T, Obersztyn E, Stankiewicz P.

Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):236-42. doi: 10.1002/ajmg.b.32020. Epub 2012 Jan 5.

PMID:
22223473
5.

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S5-10. doi: 10.1007/s10545-008-1009-4. Epub 2009 Jan 7.

PMID:
19130291
6.

Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.

Nawara M, Klapecki J, Borg K, Jurek M, Moreno S, Tryfon J, Bal J, Chelly J, Mazurczak T.

Am J Med Genet A. 2008 Dec 15;146A(24):3167-72. doi: 10.1002/ajmg.a.32613.

PMID:
19012350
7.

[Vascular ischemic dementia].

Jedrzejowska H, Dobrzyńska J, Holak-Puczyńska A, Sieklicka D, Tryfon J, Pietrzykowska I, Desperat M, Bogumił B.

Neurol Neurochir Pol. 1998 Mar-Apr;32(2):243-54. Polish.

PMID:
9760544

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