Results 261 to 270 of about 177,805 (355)

A Complex Case of Highly Tortuous Abdominal Aorta Complicated with Infrarenal Aortoiliac Aneurysm. [PDF]

open access: yesCurr Med Imaging
Piljic D   +5 more
europepmc   +1 more source

ENFOQUE BIOMECÁNICO PARA LA PREDICCIÓN DE RUPTURA DE ANEURISMAS DE AORTA ABDOMINAL

open access: green, 2011
Guillermo Vilalta‐Alonso   +5 more
openalex   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

open access: yesClinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig   +5 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

open access: yesClinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis   +9 more
wiley   +1 more source

SOX6 expression and aneurysms of the thoracic and abdominal aorta. [PDF]

open access: yesiScience
Carmona-Berrio D   +21 more
europepmc   +1 more source

Advances and Challenges in the Multidisciplinary Treatment of Retroperitoneal Infantile Fibrosarcoma in Early Life

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Background and Aims Retroperitoneal Infantile Fibrosarcoma (RIFS) is a rare, locally aggressive pediatric soft tissue tumor. Its retroperitoneal location poses challenges due to proximity and potential invasion of critical structures such as the inferior vena cava (IVC).
Gaia Brunetti   +8 more
wiley   +1 more source

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