Results 51 to 60 of about 2,309 (169)
Tratado práctico de las enfermedades de los riñones y de las alteraciones de la orina incluyendo los cálculos urinarios [PDF]
, 1891 Ilustrado con 81 grab.
Maguire, Robert, 1857-1915 +2 more
core +1 more source
Impact of N‐linked glycans on the dual short fibulin/LTBP‐4 axes regulating elastogenesis
The FEBS Journal, Volume 292, Issue 21, Page 5676-5696, November 2025.Elastic fiber assembly is orchestrated by multiple glycoproteins. We delineate the molecular basis of two key axes involved in elastic fiber formation—LTBP‐4L/fibulin‐4 and LTBP‐4S/fibulin‐5. We show that N‐linked glycans on these glycoproteins regulate their interactions and conformations, both of which are critical aspects in elastic fiber formation.
Valentin Nelea +8 more
wiley +1 more source
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
Isoeletrofocalização da transferrina em soro para investigação das doenças congênitas da glicosilação : perfil dos casos investigados pelo laboratório de erros inatos do metabolismo do serviço de genética médica do Hospital de Clínicas de Porto Alegre [PDF]
, 2018 Introdução: As doenças congênitas da glicosilação (CDG) são doenças genéticas do metabolismo das glicoproteínas, glicanos e glicolipídios, de herança autossômica recessiva em sua maioria, caracterizadas pela deficiência total ou parcial de enzimas ou ...
Magalhães, Ana Paula Pereira Scholz de
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Acquired Localized Cutis Laxa due to Increased Elastin Turnover
Case Reports in Dermatology, 2016 Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects.
Rie Harboe Nygaard +8 more
doaj +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
Caracterização dos atendimentos de um ambulatório de dermatologia no norte do Rio Grande do Sul: perfil sociodemográfico e clínico [PDF]
, 2019 The present study aimed to describe, from a sociodemographic and clinical point of view, the profile of patients seen at the Dermatological Ambulatory of the Universidade Federal da Fronteira Sul, Passo Fundo, Rio Grande do Sul, Brazil, over a year ...
Alves, Manoela Farias
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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
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
Organização da documentação iconográfica de um serviço terciário de dermatologia pediátrica [PDF]
, 2013 Resumo: Introdução: O uso da tecnologia digital trouxe novas perspectivas para os acervos das bibliotecas e a digitalização é uma necessidade para sua conservação.
Markus, Jandrei Rogério
core +1 more source