Results of newborn screening for biotinidase deficiency over a 5-year period: genotype and phenotype, therapy, and challenges

Sabīne Laktiņa; Madara Auzenbaha; Ieva Mičule; Dace Enkure; Svetlana Vorslova; Maija Savina; Agnese Vētra; Valentīna Čapligina; Elizabete Miltiņa; Indra Dzene; Linda Austriņa

Results of newborn screening for biotinidase deficiency over a 5-year period: genotype and phenotype, therapy, and challenges

Sabīne Laktiņa
, Madara Auzenbaha
, Ieva Mičule
, Dace Enkure
, Svetlana Vorslova
, Maija Savina
, Agnese Vētra
, Valentīna Čapligina
, Elizabete Miltiņa
, Indra Dzene
, Linda Austriņa

Rīga Stradiņš University

Research output: Contribution to conference › Abstract › peer-review

2 Downloads (Pure)

Original language	English
Pages	361
Publication status	Published - 27 Mar 2025
Event	RSU Research week 2025 - 16 Dzirciema Street, Riga, Rīga, Latvia Duration: 24 Mar 2025 → 28 Mar 2025 https://rw2025.rsu.lv/ https://rw2025.rsu.lv/knowledge-use-practice https://rw2025.rsu.lv/places https://rw2025.rsu.lv/society-health-welfare

Conference

Conference	RSU Research week 2025
Abbreviated title	RW 2025
Country/Territory	Latvia
City	Rīga
Period	24/03/25 → 28/03/25
Other	International Conference on Medical and Health Research. RSU Scientific Conference
Internet address	https://rw2025.rsu.lv/ https://rw2025.rsu.lv/knowledge-use-practice https://rw2025.rsu.lv/places https://rw2025.rsu.lv/society-health-welfare

Field of Science*

3.2 Clinical medicine
3.1 Basic medicine

Publication Type*

3.4. Other publications in conference proceedings (including local)

Access to Document

AbstractFinal published version, 133 KBLicence: CC BY-NC

https://dspace.rsu.lv/items/fa6820d4-4547-4fb7-9a3f-b19f6fb800e8Licence: CC BY-NC

Cite this

Laktiņa, S., Auzenbaha, M., Mičule, I., Enkure, D., Vorslova, S., Savina, M., Vētra, A., Čapligina, V., Miltiņa, E., Dzene, I., & Austriņa, L. (2025). Results of newborn screening for biotinidase deficiency over a 5-year period: genotype and phenotype, therapy, and challenges. 361. Abstract from RSU Research week 2025, Rīga, Latvia. https://dspace.rsu.lv/items/fa6820d4-4547-4fb7-9a3f-b19f6fb800e8

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author = "Sabīne Laktiņa and Madara Auzenbaha and Ieva Mi{\v c}ule and Dace Enkure and Svetlana Vorslova and Maija Savina and Agnese Vētra and Valentīna {\v C}apligina and Elizabete Miltiņa and Indra Dzene and Linda Austriņa",

year = "2025",

month = mar,

day = "27",

language = "English",

pages = "361",

note = "RSU Research week 2025, RW 2025 ; Conference date: 24-03-2025 Through 28-03-2025",

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Laktiņa, S , Auzenbaha, M , Mičule, I, Enkure, D, Vorslova, S, Savina, M, Vētra, A, Čapligina, V, Miltiņa, E, Dzene, I & Austriņa, L 2025, 'Results of newborn screening for biotinidase deficiency over a 5-year period: genotype and phenotype, therapy, and challenges', RSU Research week 2025, Rīga, Latvia, 24/03/25 - 28/03/25 pp. 361. <https://dspace.rsu.lv/items/fa6820d4-4547-4fb7-9a3f-b19f6fb800e8>

TY - CONF

T1 - Results of newborn screening for biotinidase deficiency over a 5-year period

T2 - RSU Research week 2025

AU - Laktiņa, Sabīne

AU - Auzenbaha, Madara

AU - Mičule, Ieva

AU - Enkure, Dace

AU - Vorslova, Svetlana

AU - Savina, Maija

AU - Vētra, Agnese

AU - Čapligina, Valentīna

AU - Miltiņa, Elizabete

AU - Dzene, Indra

AU - Austriņa, Linda

PY - 2025/3/27

Y1 - 2025/3/27

M3 - Abstract

SP - 361

Y2 - 24 March 2025 through 28 March 2025

ER -