Results 111 to 120 of about 36,985 (244)

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A., Ali, Nouman Safdar, Ilyas, Ghulam, Inayat, Faisal, Khan, Zarak H., Lodhi, Hanan T., Ullah, Waqas   +6 more
core   +1 more source

All-atom simulations reveal how single point mutations promote serpin misfolding

, 2018
Protein misfolding is implicated in many diseases, including the serpinopathies. For the canonical inhibitory serpin {\alpha}1-antitrypsin (A1AT), mutations can result in protein deficiencies leading to lung disease, and misfolded mutants can accumulate ...
Beccara, Silvio a, Faccioli, Pietro, Gershenson, Anne, Ianeselli, Alan, Orioli, Simone, Spagnolli, Giovanni, Wang, Fang, Wintrode, Patrick L.   +7 more
core   +1 more source

Protein changes as robust signatures of fish chronic stress: a proteomics approach to fish welfare research [PDF]

, 2020
Background Aquaculture is a fast-growing industry and therefore welfare and environmental impact have become of utmost importance. Preventing stress associated to common aquaculture practices and optimizing the fish stress response by ...
Cerqueira, Marco, Farinha, Ana Paula, Kuehn, Annette, Planchon, Sébastien, Raposo de Magalhães, Cláudia, Revets, Dominique, Rodrigues, Pedro, Schrama, Denise   +7 more
core  

The pathological Trento variant of alpha-1-antitrypsin (E75V) shows non-classical behaviour during polymerization [PDF]

, 2017
Severe alpha-1-antitrypsin deficiency (AATD) is most frequently associated with the alpha-1-antitrypsin (AAT) Z variant (E342K). ZZ homozygotes exhibit accumulation of AAT as polymers in the endoplasmic reticulum of hepatocytes.
Bodker, Chiou, Crooks, Dafforn, Ekeowa, Elliott, Ferrarotti, Ferrarotti, Ferrarotti, Fra, Fra, Gaczynska, Gooptu, Haq, Haq, Hess, Irving, Irving, Jensen, Jeppsson, Knaupp, Koloczek, Laurell, Lomas, Lomas, Lomas, Lomas, Luisetti, Mahadeva, Mahadeva, Medicina, Miranda, Miranda, Morena-Barrio, Motamedi-Shad, Ordonez, Pini, Ronzoni, Schneider, Seo, Stein, Tan, Tan, Tsutsui, Tsutsui, Wu, Yamasaki, Yamasaki, Yu, Zhang, Zhou   +50 more
core   +2 more sources

Hepatopulmonary syndrome as presentation of pediatric metabolic dysfunction‐associated steatohepatitis

JPGN Reports, Volume 7, Issue 2, Page 362-365, May 2026.
Abstract Childhood obesity is rising and leading to serious co‐morbidities, among which is metabolic dysfunction‐associated steatotic liver disease (MASLD) predisposing individuals to cirrhosis. We describe a young 11‐year‐old Hispanic male who presented with hepatopulmonary syndrome secondary to cirrhotic portal hypertension from metabolic dysfunction‐
Shruti Sakhuja, Stacey S. Beer, Kalyani R. Patel, Alexiss M. Williams, Nhu Thao Galvan, John A. Goss, Krupa R. Mysore   +6 more
wiley   +1 more source

Phenotypes of Alpha 1 Antitrypsin in Karachi, Pakistan [PDF]

, 2000
Objective: To determine serum level of the protease inhibitor, to identify phenotypes and determine their frequencies. Study Design: A prospective study. Setting: PMRC Research Centre, JPMC and the Aga Khan University Hospital Karachi.
Shahid, Anjum, Siddiqui, Anwar Ali, Waqar, Mohammad, Zuberi, Sarwar i J   +3 more
core  

Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples [PDF]

, 2017
Background: α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are ...
Barrecheguren, Miriam, Belmonte, Irene, Esquinas López, Cristina, Miravitlles Fernández, Marc, Rodriguez-Frias, Francisco, Rodríguez, Esther   +5 more
core   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, Volume 7, Issue 2, Page 266-270, May 2026.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Serum Alpha-1 Antitrypsin Levels and the Clinical Course of Chronic Obstructive Pulmonary Disease

International Journal of COPD, 2019
Nozomu Takei,1,* Masaru Suzuki,1,* Hironi Makita,2 Satoshi Konno,1 Kaoruko Shimizu,1 Hiroki Kimura,1 Hirokazu Kimura,1 Masaharu Nishimura1,2 1Department of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University ...
Takei N, Suzuki M, Makita H, Konno S, Shimizu K, Kimura H, Kimura H, Nishimura M   +7 more
doaj  

Serum Alpha 1 Antitrypsin and Pulmonary Emphysema [PDF]

, 1996
Using isoelectric focusing (lEE) and radial immunodiffusion (RID) techniques, serum samples from 100 normal healthy adults and 21 patients with pulmonary emphysema were analysed to identify varioud alpha 1 antitrypsin phenotypes and the Seru m ...
Ansari, Musawir, Aziz, Salimuddin, Shahid, Anjum, Siddiqui, Anwar Ali, Waqar, Mohammed Anwar, Zuben, Sarwar J.   +5 more
core   +1 more source