Results 101 to 110 of about 7,479 (177)

Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome)

Case Reports in Radiology, 2017
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the
Haji Mohammed Nazir, Akshiitha Ramesh Baabhu, Yuvaraj Muralidharan, Seena Cheppala Rajan   +3 more
doaj   +1 more source

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

The Application of Clinical Genetics, 2020
Harry Pachajoa,1,2 Angelica Claros-Hulbert,3,4 Ximena García-Quintero,3,4 Lina Perafan,1 Andres Ramirez,5 Andres F Zea-Vera6 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali,
Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF   +5 more
doaj  

The thermodynamics of metabolism, cardiovascular performance and exercise, in health and diabetes: The objective of clinical markers [PDF]

, 2013
Extensive experience in UK National Health Service metabolic syndrome/type 2 diabetes clinics highlights the need for convenient clinical marker(s) which can be readily used to indicate the success or otherwise of alternative therapies.
Atherton, MA, Collins, MW, González-Alonso, J, König, CS, Ramachandran, S   +4 more
core  

Hutchinson-Gilford progeria syndrome

Indian Dermatology Online Journal, 2015
Amar Singh Bhukya, Bellum Siva Nagi Reddy   +1 more
doaj   +1 more source

X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome) [PDF]

, 2013
This is a lethal X-linked disorder of infancy comprising a distinct combination of distinctive craniofacial features producing an aged appearance, growth failure, hypotonia, global developmental delays, cryptorchidism, and acquired cardiac arrhythmias ...
Bird, Lynne M., Lyon, Gholson J., Rope, Alan   +2 more
core  

Potential Role of p53 in Huchinson-Gilford Progeria Syndrome [PDF]

, 2017
Undergraduate ...
Eschedor, Danielle, Schiefer, Levi, Thomas, Abigail   +2 more
core  

Ghrelin delays premature aging in Hutchinson-Gilford progeria syndrome. [PDF]

Aging Cell, 2023
Ferreira-Marques M, Carvalho A, Franco AC, Leal A, Botelho M, Carmo-Silva S, Águas R, Cortes L, Lucas V, Real AC, López-Otín C, Nissan X, de Almeida LP, Cavadas C, Aveleira CA.   +14 more
europepmc   +1 more source

Isoprenylcysteine Carboxylmethyltransferase-Based Therapy for Hutchinson–Gilford Progeria Syndrome

ACS Central Science, 2021
Beatriz Marcos-Ramiro, Ana Gil-Ordóñez, Nagore I. Marín-Ramos, Francisco J. Ortega-Nogales, Moisés Balabasquer, Pilar Gonzalo, Nora Khiar-Fernández, Loïc Rolas, Anna Barkaway, Sussan Nourshargh, Vicente Andrés, Mar Martín-Fontecha, María L. López-Rodríguez, Silvia Ortega-Gutiérrez   +13 more
doaj   +1 more source

Epidural hematoma in a pediatric patient with Hutchinson-Gilford progeria syndrome: management considerations: a case report. [PDF]

Chin Neurosurg J
Ozmarasali AI, Sivas ZZ, Uguz I, Oto A.
europepmc   +1 more source

A study on the nutritional status and body composition of children with Hutchinson-Gilford progeria syndrome. [PDF]

Orphanet J Rare Dis
Yu Q, Wang J, Fu H, Mao J.
europepmc   +1 more source