Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Madara Auzenbaha"'
Publikováno v:
Neurology International, Vol 15, Iss 4, Pp 1489-1496 (2023)
This case report presents the clinical course of an eight-year-old boy diagnosed with febrile infection-related epilepsy syndrome (FIRES) at the age of four. Following a febrile infection, the patient experienced his initial episode of serial general
Externí odkaz:
https://doaj.org/article/8c5805cc16c34a499d017c3f185e99b2
Autor:
Darta Elizabete Emulina, Iveta Abola, Anda Brinkmane, Aleksejs Isakovs, Ingus Skadins, Georgijs Moisejevs, Linda Gailite, Madara Auzenbaha
Publikováno v:
Diagnostics, Vol 14, Iss 2, p 192 (2024)
Objectives: Periodontitis is a multifactorial disease that affects approximately 11% of the global population. The objective of this study was to examine whether, among individuals with phenylketonuria and type 1 diabetes mellitus, those with the IL1
Externí odkaz:
https://doaj.org/article/4c61124196994d15b22398d0a1cf415a
Autor:
Iveta Abola, Darta Elizabete Emulina, Ingus Skadins, Anda Brinkmane, Linda Gailite, Madara Auzenbaha
Publikováno v:
Acta Stomatologica Croatica, Vol 56, Iss 2, Pp 109-119 (2022)
Objectives: Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism resulting from a deficiency of phenylalanine hydroxylase. The aim of this study was to evaluate the dental status and periodontal health of PKU
Externí odkaz:
https://doaj.org/article/bd3a2e5e37f6458dbf49f445d3b4dc0a
Autor:
Tīna Luīze Čupāne, Mikus Dīriks, Gita Tauriņa, Liene Korņejeva, Linda Gailīte, Ieva Mālniece, Madara Auzenbaha
Publikováno v:
Case Reports in Medicine, Vol 2023 (2023)
This case report presents the first registered patient in Latvia with type 0 spinal muscular atrophy (SMA). During the first-trimester ultrasonography of the unborn patient, an increased thickness of the nuchal fold was detected. The mother reported
Externí odkaz:
https://doaj.org/article/c1f6c647e3564fd9a250b6d5c55846b9
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Mucopolysaccharidosis type I S (MPS IS) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the IDUA gene, leading to a deficiency of the enzyme alpha-L-iduronidase. Enzyme replacement therapy (ERT) reduces lysosomal stora
Externí odkaz:
https://doaj.org/article/cf38c9f31df4419b8f4997af663ca955
Publikováno v:
Children, Vol 10, Iss 6, p 936 (2023)
(1) Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism. The main treatment for PKU is to manage nutrition, thereby restricting phenylalanine intake. Part of patient management is analyzing eating ha
Externí odkaz:
https://doaj.org/article/9e3fde3e3d4c4a7e9e925deb525baf58
Autor:
Iveta Abola, Dita Gudra, Maija Ustinova, Davids Fridmanis, Darta Elizabete Emulina, Ingus Skadins, Anda Brinkmane, Una Lauga-Tunina, Linda Gailite, Madara Auzenbaha
Publikováno v:
Microorganisms, Vol 11, Iss 6, p 1471 (2023)
Some metabolic disorder treatments require patients to follow a specific diet or to consume supplements that, over time, can lead to oral microbiome alterations. Well-known disorders requiring such treatment are phenylketonuria (PKU), an inborn error
Externí odkaz:
https://doaj.org/article/34480826c5c841748b82ef25e876c983
Autor:
Madara Auzenbaha, Elina Aleksejeva, Gita Taurina, Liene Kornejeva, Inga Kempa, Vija Svabe, Linda Gailite
Publikováno v:
Diagnostics, Vol 12, Iss 11, p 2893 (2022)
Cystic fibrosis (CF) is the most common life-limiting genetic disorder in European descent populations. It is caused by pathogenic variants in the CFTR gene, and inheritance is autosomal recessive. This study provides an up-to-date, comprehensive est
Externí odkaz:
https://doaj.org/article/a83419a380ec49baa6146635cf55a2a6
Autor:
Linda Gailite, Olga Sterna, Maija Konika, Aleksejs Isakovs, Jekaterina Isakova, Ieva Micule, Signe Setlere, Mikus Diriks, Madara Auzenbaha
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 15 (2022)
New disease-modifying treatments have recently been approved for 5q spinal muscular atrophy (SMA) and early treatment has been associated with a better clinical outcome. Accordingly, new-born screening (NBS) for SMA should be implemented to ensure ea
Externí odkaz:
https://doaj.org/article/de01cb2b6fc34a1292987622e11fd7b8
Autor:
Tina Luize Cupane, Mikus Diriks, Gita Taurina, Liene Kornejeva, Linda Gailite, Ieva Malniece, Madara Auzenbaha
Background currently, there are only a few published case reports detailing an increased nuchal translucency (NT) measurement in association with a diagnosis of SMA in the foetus. However, an increased NT measurement is a clinically relevant sign as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2851eace525a5416e70c030da7beb02b
https://doi.org/10.21203/rs.3.rs-2134554/v1
https://doi.org/10.21203/rs.3.rs-2134554/v1