Results 231 to 240 of about 167,241,951 (289)

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Epidemiological pattern of death and causes of death in registered immigrants of Northeast Iran during the 2013-2023: a cross-sectional study. [PDF]

BMC Public Health
Eslami S, Farkhani EM, Sadeghi M, Andish M, Khodadadi N, Dehghani M.   +5 more
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Decomposition of cross-country socioeconomic inequality in mortality by 288 causes of death and 84 risk factors from 1990 to 2021. [PDF]

Nat Commun
Peng D, Xu R, Hales S, Morawska L, Chen G, Yang Z, Zhang Y, Abramson MJ, Li S, Guo Y.   +9 more
europepmc   +1 more source

A hierarchy of causes of death in senescent C. elegans

Wang H, Kern CC, Nguyen Hong C, Saez Allende A, Qiao J, Zhang A, Fan Y, Ezcurra M, Gems D.   +8 more
europepmc   +1 more source

Slowdown in mortality improvements and trends in lifespan inequality across high-income countries: the role of changing causes of death, 2010-2021. [PDF]

Eur J Public Health
Zheng Y, van Raalte A, Sasson I.
europepmc   +1 more source

Adaptive modelling approach for predicting causes of death: insights from verbal autopsy data in Tanzania. [PDF]

Int Health
Tunga M, Chambua J, Lungo J.
europepmc   +1 more source

Burden of 292 causes of death and life expectancy decomposition in Iran, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

Lancet Glob Health
GBD 2023 Iran Collaborators.
europepmc   +1 more source

Estimates of global causes of death for children and adolescents aged 5-19 in 2000-24: secondary data analysis using bayesian multinomial logistic regression.

BMJ
Eilerts-Spinelli H, Villavicencio F, Perin J, Prieto-Merino D, Wahi A, Hug L, Strong KL, Black RE, Liu L.   +8 more
europepmc   +1 more source