Results 91 to 100 of about 1,678 (140)

Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines

Orphanet Journal of Rare Diseases
Purpose To enhance the detection rate of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) through newborn screening (NBS), we analyzed the metabolic profiles of missed patients and proposed a more reliable method for early diagnosis.
Peiyao Wang, Lingwei Hu, Yuhe Chen, Duo Zhou, Shasha Zhu, Ting Zhang, Ziyan Cen, Qimin He, Benqing Wu, Xinwen Huang   +9 more
doaj   +1 more source

Genetic portrait of intrinsic drug resistance of various morphological structures in breast cancer

, 2020
Произведена оценка влияния внутриопухолевой морфологической гетерогенности рака молочной железы (РМЖ) на эффективность химиотерапии с учетом различных клинико-патологических параметров опухоли и поиск механизмов её вклада в химиорезистентность ...
Вторушин, Сергей Владимирович, Завьялова, Марина Викторовна, Геращенко, Татьяна Сергеевна, Перельмутер, Владимир Михайлович, Паутова, Дарья Николаевна, Денисов, Евгений Владимирович, Литвяков, Николай Васильевич, Крахмаль, Надежда Валерьевна, Слепцов, Алексей Анатольевич, Скрябин, Николай Алексеевич, Чердынцева, Надежда Викторовна   +10 more
core  

Recurrent Hyperammonemic Encephalopathy in Adults with Citrin Deficiency: A Case Report of Two Genetically Confirmed Cases. [PDF]

J Clin Med
Pham TNQ, Vo VH, Nguyen QH, Trinh TTT, Vo TD.   +4 more
europepmc   +1 more source

Maternal reproductive precocity shapes immunometabolic responses to lipopolysaccharide challenge in Japanese quail offspring. [PDF]

Poult Sci
Conceição JDS, Gasparino E, Khatlab AS, Barbosa MAP, Santos VDS, da Silva LS, Bastos MS, Santana TP, Marcato SM, Ddine EMC, Zancanella VT, Brito CO, Vieira JS, Paula Del Vesco A.   +13 more
europepmc   +1 more source

Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of <i>SLC25A13</i> Gene Mutations in Hefei, China. [PDF]

Int J Neonatal Screen
Ma Q, Chen J, Huang Y, Wang Y, Song W, Xu H, Wan Y, Hu H.   +7 more
europepmc   +1 more source

Granulocyte differentiation arrest in HAX1-deficient cells, demonstrated in a new in vitro model of a certain phenotypic aspects of Kostmann disease, is caused by ineffective lipid droplet autophagy and fatty acids uptake. [PDF]

Cell Death Dis
Wakula M, Jablonowska M, Chmielarczyk M, Tarnowski L, Kulinczak M, Sitkiewicz E, Swiderska B, Samborowska E, Radkiewicz M, Kianfar M, Statkiewicz M, Rumienczyk I, Balcerak A, Konopinski R, Trebinska-Stryjewska A, Grzybowska EA.   +15 more
europepmc   +1 more source

SLC25 in intestinal inflammation: mechanisms, pathological roles, and therapeutic implications. [PDF]

Front Immunol
Xu J, Zuo Z, Wang P, He T, Xun L, An Y, Luo M, Qi J, Wan P.   +8 more
europepmc   +1 more source

SLC25A13 could function as a prognostic biomarker for glioma

Asian Journal of Surgery
Yuqian Zheng, Shaolong Zhou, Wulong Liang, Xinjun Wang   +3 more
doaj   +1 more source

Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China. [PDF]

Ann Med
Mu J, Sun M, Li Y, Li P, Zou H.
europepmc   +1 more source

Identification and validation of lactate-related gene signatures in endometriosis for clinical evaluation and immune characterization by WGCNA and machine learning. [PDF]

Front Cell Dev Biol
Li J, Hu X, Pan C, Liu Q, Zhang S, Zhang C, Zhou X.   +6 more
europepmc   +1 more source