Results 231 to 240 of about 602,288 (337)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Navigating the brain: How cerebral blood flow shifts with task complexity. [PDF]

PLoS One
Fitzgibbon-Collins LK, Noguchi M, Coombs GB, Hughson RL, Guest C, Amelard R, McArthur D, Peters S, Best S, Borrie M, Khan H, Shoemaker JK, Bhangu J.   +12 more
europepmc   +1 more source

Acute effects of cigarette smoking on global cerebral blood flow in overnight abstinent tobacco smokers

, 2006
Takao Shinohara, Ken Nagata, Eriko Yokoyama, Mika Sato, Shigeaki Matsuoka, Iwao Kanno, Jun Hatazawa, Edward F. Domino   +7 more
openalex   +2 more sources

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

The Correlation Between Lateral Ventricle Asymmetry and Cerebral Blood Flow: Implications for Stroke Risk. [PDF]

Diagnostics (Basel)
Sun X, Gao W, Gao S, Wang X, Feng H.
europepmc   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Transcranial Doppler ultrasound validation of BOLD-fMRI cerebral blood flow relationship. [PDF]

Magn Reson Med
Hayes G, Pinto J, Sparks S, Bulte DP.
europepmc   +1 more source

Comparative virology and pathology of Monkeypox virus in Syrian hamsters, C57BL/6, and BALB/c mice: A framework for preclinical model selection

Animal Models and Experimental Medicine, EarlyView.
This study compared monkeypox virus (MPXV) infection in three small animal models: Syrian hamsters, C57BL/6 mice, and BALB/c mice. Following intraperitoneal inoculation, Syrian hamsters exhibited the highest susceptibility, with rapid systemic viral dissemination, elevated splenic and renal viral burdens, and severe histopathological damage, followed ...
Xiaohui Wei, Jing Wu, Hekai Yang, Na Li, Binbin Zhao, Wanjun Peng, Na Rong, Wei Zhang, Jing Xue, Jiangning Liu   +9 more
wiley   +1 more source

Cerebral blood flow, autoregulation and vascular reactivity in normal pressure hydrocephalus: a systematic review. [PDF]

Fluids Barriers CNS
Lalou AD, Czosnyka ZH, Czosnyka M, Pickard JD.   +3 more
europepmc   +1 more source