Results 221 to 230 of about 5,537 (272)

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee   +10 more
wiley   +1 more source

Evaluation of ChatGPT's performance on answering pediatric urology questions based on association guidelines. [PDF]

Can Urol Assoc J
MacNevin W, Dawe N, Harkness L, Salman B, Keefe DT.   +4 more
europepmc   +1 more source

Total proximal tibial osteotomy and cranial closing wedge ostectomy for treating concomitant medial patellar luxation and cranial cruciate ligament disease in dogs with excessive tibial torsion. [PDF]

PLoS One
Carrera ALC, Curuci EHP, Lucena DVF, Costa LV, Faustino RCS, Silva SCC, Dias LGGG, Minto BW.   +7 more
europepmc   +1 more source

Rapid testicular salvage in the emergency department using point of care ultrasound [POCUS]. [PDF]

Int J Emerg Med
Taha K, Bonachera A, Hegarty N, Tivnan E, Umana E, Smith Diakidis D, Mustafa J, Breslin T, Alhadi B, Devlin E.   +9 more
europepmc   +1 more source

A Comparative CT Study on Anatomical Characteristics of Pediatric Habitual Patellar Dislocation in Extension and Flexion. [PDF]

Orthop Surg
Zhang Q, Dai ZZ, Zhou H, Yu HX, Li H, Sha L.   +5 more
europepmc   +1 more source

Hemorrhagic necrosis of omental cysts misdiagnosed as torsion of ovarian cysts: a case report and literature review. [PDF]

BMC Womens Health
You M, Zhao W, Zhou M, Zhai Z, Tian L, Yu E.   +5 more
europepmc   +1 more source

Life's first challenge: Exploring wrist necrosis accompanied by feet deformity in a newborn from umbilical cord torsion; a case report study. [PDF]

Int J Surg Case Rep
Bagheri N, Bahmani K, Poursaadat N, Faraji N, Hamidi K, Rezaei B.   +5 more
europepmc   +1 more source

Blame It on My (Arterial) Youth: How Childhood Vascular Morphology Shapes the Risk of Cerebral Vasculopathy in Sickle Cell Disease

American Journal of Hematology, Volume 101, Issue 3, Page 415-417, March 2026.
Thomas Pincez
wiley   +1 more source

‘Torsion Dystony’ and Abnormal Copper Metabolism

European Neurology, 1972
A patient suffering from torsion dystony presenting abnormal copper metabolism is reported. Low ceruloplasmin concentration was found in other members of his family.
Y, Herishanu, E, Loewinger
openaire   +3 more sources

An abnormal mode of torsion pendulum and its suppression

Physics Letters A, 2004
zbMATH Open Web Interface contents unavailable due to conflicting licenses.
Tu, Ying, Zhao, Liang, Liu, Qi, Ye, Hong-Ling, Luo, Jun   +4 more
openaire   +2 more sources