Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion

Autor: Kristina Grigalionienė, Birutė Burnytė, Danutė Balkelienė, Laima Ambrozaitytė, Algirdas Utkus

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)

Abstract Background Kearns‐Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduc

Externí odkaz: https://doaj.org/article/5b144b7492a24501b535e885d1c7a127

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

Autor: Dovilė Ruzgienė, Meda Sutkevičiūtė, Birutė Burnytė, Kristina Grigalionienė, Augustina Jankauskienė

Publikováno v: Acta Medica Lituanica, Vol 28, Iss 2 (2021)

Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare. Kidney

Externí odkaz: https://doaj.org/article/3233cec36480403b860ac7025d57b383

Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion

Autor: Kristina Grigalionienė, Birutė Burnytė, Danutė Balkelienė, Laima Ambrozaitytė, Algirdas Utkus

Publikováno v: Molecular genetics & genomic medicine, Hoboken : Wiley, 2023, vol. 11, no. 1, art. no. e2059, p. [1-6]

Background: Kearns- Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac con-duction ano

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1ae9d7b9692149bffadf1a3c6bf60ad
https://pubmed.ncbi.nlm.nih.gov/36181358

Impact of newborn screening on clinical presentation of congenital adrenal hyperplasia

Autor: Marius Šukys, Algirdas Utkus, Giedrė Mockevičienė, Jurgita Songailienė, Kristina Grigalionienė, Kornelija Banevičiūtė, Marija Smirnova, Rasa Verkauskienė, Darius Čereškevičius, Rūta Navardauskaitė

Publikováno v: Medicina, Kaunas; Basel : LSMU ; MDPI, 2021, vol. 57, no. 10, art. no. 1035, p. [1-16]
Medicina
Volume 57
Issue 10
Medicina, Vol 57, Iss 1035, p 1035 (2021)

Background and Objectives: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programs are not always sen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb9a5fff87992ece5208ba841d118635
https://repository.vu.lt/VU:ELABAPDB121241534&prefLang=en_US

ASSOCIATION STUDIES WITH PREDISPOSITION TO OXIDATIVE STRESS AND ATHEROSCLEROSIS IN LITHUANIA

Autor: Zita Aušrelė Kučinskienė, Aleksandras Laucevičius, Kristina Grigalionienė, Ramūnas Janavičius, Vaidutis Kučinskas, A. Timinskas

Publikováno v: Atherosclerosis Supplements. 9:55

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f38fcdbadd5f1b46a643c1ff0d430142
https://doi.org/10.1016/s1567-5688(08)70216-2