Results 51 to 60 of about 7,425 (220)

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, Volume 109, Issue 5, Page 837-846, May 2026.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Medicine Development and Access for Rare Diseases: Can We Do Better?

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines.
Carla E. M. Hollak, Noa Rosenberg, Colinda Post, Nina Stolwijk, Evert Manders, Daphne Schoenmakers, Bart Penninx, Niels Reijnhout, Kathelijn Verdeyen, Roel Jonker, Annet M. Bosch, Mirjam Langeveld, Vincent van der Wel, Saco de Visser, Sibren van den Berg   +14 more
wiley   +1 more source

A Matter of Principles: Empirical Treatments of Translation Principles – A Case Study [PDF]

, 2005
In this paper, the author will discuss findings of an investigation into the real life experiences of 21 trainee translators with two types of translation principles, one that is biased towards the source text and its author and the other biased towards ...
Zhong, Yong
core   +1 more source

Prevalência de prescrição de medicamentos off-label num hospital universitário : proposta de monitorização de indicadores de efetividade e segurança [PDF]

, 2016
Monografia realizada no âmbito da unidade de Estágio Curricular do Mestrado Integrado em Ciências Farmacêuticas, apresentada à Faculdade de Farmácia da Universidade de CoimbraO uso off-label de medicamentos consiste na sua utilização intencional fora das
Parreira, Mariana Daniela Mendes
core  

Differences in synthesis and absorption of cholesterol of two effective lipid-lowering therapies [PDF]

, 2012
Effective statin therapy is associated with a marked reduction of cardiovascular events. However, the explanation for full benefits obtained for LDL cholesterol targets by combined lipid-lowering therapy is controversial.
Borges, Ney Carter do Carmo, Figueiredo Neto, Antonio Martins, Fonseca, Francisco Antonio Helfenstein, França, Carolina Nunes, Helfenstein, Tatiana, Izar, Maria Cristina de Oliveira, Kasmas, Soraia Hani, Moreira, Flávio Tocci, Moreno, Ronilson Agnaldo, Ramos, Silvia Cristina   +9 more
core   +2 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Incidental Diagnosis of Erdheim–Chester Disease in a 42‐Year‐Old Man With Persistent Elevated ESR and Peri‐Ocular Xanthomas: A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
A 42‐year‐old man with persistent ESR elevation and peri‐ocular xanthomas was diagnosed with Erdheim–Chester disease via biopsy of the accessible cutaneous lesion, supported by characteristic “hairy kidney” imaging and symmetric skeletal uptake.
Mohammad Rahimi, Alireza Ghanadan, Nooshin Shirzad, Mehrnaz Doostmohammadi, Mahboobeh Hemmatabadi   +4 more
wiley   +1 more source

Severe hypertriglyceridemia presenting as eruptive xanthomatosis

Journal of Family Medicine and Primary Care, 2018
Eruptive xanthomatosis is described as the sudden eruption of erythematous yellow papules in the presence of hypertriglyceridemia, often associated with serum triglyceride levels above 2000 mg/dl.
Sameera S Vangara, Kyle D Klingbeil, Raymond M Fertig, Jason L Radick   +3 more
doaj   +1 more source

The role of the lymphatic system in cholesterol transport [PDF]

, 2015
Reverse cholesterol transport (RCT) is the pathway for removal of peripheral tissue cholesterol and involves transport of cholesterol back to liver for excretion, starting from cellular cholesterol efflux facilitated by lipid-free apolipoprotein A1 ...
Andrew Elvington, Gwendalyn J. Randolph, Li-Hao Huang   +2 more
core   +3 more sources

Homozygous familial hypercholesterolemia

Indian Journal of Endocrinology and Metabolism, 2012
Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile ...
Ravi Kumar Parihar, Mohd. Razaq, Ghanshyam Saini   +2 more
doaj   +1 more source