Results 61 to 70 of about 6,036 (217)
Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor +7 more
wiley +1 more source
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of inherited metabolic diseases (IMD) characterized by defects in the synthesis and modification of glycoproteins and glycolipids. One of these disorders is ATP6AP1‐CDG, a rare X‐linked disease with approximately 30 cases reported so far. Symptoms associated with ATP6AP1‐CDG
Amirreza Jabbaripour Sarmadian +4 more
wiley +1 more source
Anesthesia Management in Rare Case: Cutis Laxa Syndrome
Archives of Anesthesia and Critical Care, 2015 Cutis laxa is rare and hetrogenous group of disorders related to abnormalities in elastic tissue. It may be autosomal recessive, autosomal dominant, X linked or acquired.
Anahid Maleki +5 more
doaj
Linear Focal Elastosis: A Peculiar Dermatosis
Clinical Case Reports, Volume 13, Issue 9, September 2025.LFE confirmed by orcein stain showing fragmented elastic fibers within the reticular dermis. ABSTRACT Linear focal elastosis (LFE), also known as elastotic striae, is a rare cutaneous condition characterized by abnormal or increased deposition of elastic fibers in the dermis.
Adnan Ahmad +3 more
wiley +1 more source
, 2020 Arterial tortuosity syndrome (ATS) is a recessively inherited connective tissue disorder, mainly characterized by tortuosity and aneurysm formation of the major arteries.
Barnhoorn, Sander +14 more
core +1 more source
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]
, 2017 Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G +6 more
core +1 more source
Magnetic Resonance in Medicine, Volume 94, Issue 2, Page 771-784, August 2025.Abstract Purpose The aim is to establish the relationship between carotid susceptibility and microstructural components in diseased carotid arteries. Methods Excised cadaveric carotid arteries (n = 5) were scanned using high‐resolution QSM at 7 Tesla. After ex vivo imaging, all samples were brought to histology and stained for elastin, collagen, cells,
Alan J. Stone +4 more
wiley +1 more source
Indian journal of dermatology, venereology and leprology, 2017 A 20 years old male had cutis laxa manifesting as loose pendulous .skin over the face and neck giving a prematurely aged appearance.
Jayakar, Thomas +2 more
openaire +3 more sources
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities [PDF]
, 2018 Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of ...
Baumer, Alessandra +9 more
core
From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders [PDF]
, 2015 Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality.
De Vilder, eva, Vanakker, Olivier
core +2 more sources