Results 261 to 270 of about 177,805 (354)

Clinical Challenges in Transition to Adult Care for Young People With Endocrinopathies

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT The complexity of transition of pediatric patients to adult care is well recognized, with a multidisciplinary approach widely agreed to be essential. Despite extensive existing literature in this area, practical guidance as to the management of specific medical aspects and how to address these with patients and families is lacking, with little
Margaret Zacharin, Quynh‐Nhu Nguyen
wiley   +1 more source

Spontaneous Jejunal Perforation Caused by Cholesterol Crystal Embolization in a Patient with a Shaggy Aorta: A Case Report. [PDF]

open access: yesSurg Case Rep
Tanaka H   +10 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

Cardiovascular measures from abdominal MRI provide insights into abdominal vessel genetic architecture. [PDF]

open access: yesCommun Med (Lond)
Basty N   +7 more
europepmc   +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

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