Results 11 to 20 of about 291 (100)

Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report [PDF]

Frontiers in Neurology
BackgroundEarly-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL-1) is an autosomal recessive disorder whereby a fluctuating clinical course is exacerbated by febrile illnesses. Pathogenic NAD(P)HX epimerase (NAXE) gene
Montaha Almudhry, Montaha Almudhry, Chitra Prasad, Chitra Prasad, C. Anthony Rupar, C. Anthony Rupar, Keng Yeow Tay, Keng Yeow Tay, Asuri N. Prasad, Asuri N. Prasad   +9 more
doaj   +2 more sources

Postnatal Growth Restriction Is Reduced If Birth Weight Is Used for Nutritional Calculations in ELBW Infants

International Journal of Pediatrics, 2018
Since fluid and nutrition needs and delivery in ELBW infants are calculated based on their body weights, there could be a measurable difference in fluid, nutrition, and protein intake calculations based on birth weight (BW) or current weight of the ...
Pradeep Alur, Harithsa Asuri, Jane Cirelli, Ankita Patel, Theodore Bell, Jonathan Liss, Naveed Hussain   +6 more
doaj   +2 more sources

Editorial: Protein-Material interfaces: Fundamentals and applications volume II [PDF]

Frontiers in Molecular Biosciences, 2023
Greta Faccio, Prashanth Asuri
doaj   +2 more sources

Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature [PDF]

Molecular Genetics and Metabolism Reports
Objectives: To compare delayed-onset Krabbe disease (KD) and outcomes between two siblings in relation to allogeneic hematopoietic stem cell transplantation (HSCT).
Montaha Almudhry, Chitra Prasad, Keng Yow Tay, C. Anthony Rupar, Harold Atkins, Asuri N. Prasad   +5 more
doaj   +2 more sources

Kürt-Nasturi İlişkileri ve Ağa Petros’un “Özerk Asuri Devleti Projesi” (1919-1923)

Skad, 2015
İngiltere I. Dünya Savaşı öncesinde ve sonrasında İran’da ve Irak’ta önemli bir askeri güce sahipti. Bu süreçte İngiliz yetkililer Kürtlere, Ermenilere ve Nasturilere devletleşmeleri sürecinde siyasi destek sözü veriyorlardı.
Levent Ayabakan
doaj   +1 more source

Coexisting parathyroid adenoma, thyroid carcinoma, and tuberculosis of thyroid: a case report [PDF]

Journal of Medical Case Reports
Background Coexisting parathyroid adenoma, thyroid carcinoma, and tuberculosis of thyroid is a very rare phenomenon. Primary thyroid tuberculosis is itself very rare despite high global prevalence of tuberculosis in developing countries.
Adarsh Pratap Singh, Biswarup Pramanik, Arshi Tandon, Asuri Krishna, V. Seenu   +4 more
doaj   +2 more sources

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

JIMD Reports, 2019
Background Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the CLN ...
Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews   +8 more
doaj   +2 more sources

Editorial: Protein-Material Interfaces: Fundamentals and Applications [PDF]

Frontiers in Molecular Biosciences, 2022
Prashanth Asuri, Greta Faccio
doaj   +2 more sources

De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures [PDF]

Frontiers in Neurology, 2021
Objectives: Mutations in the STXBP1 gene have been associated with epileptic encephalopathy. Previous studies from in vitro neuroblastoma 2A cells showed that haploinsufficiency of STXBP1 is the mechanism for epileptic encephalopathy.
Ping Yang, Ping Yang, Robert Broadbent, Robert Broadbent, Chitra Prasad, Simon Levin, Sharan Goobie, Joan H. Knoll, Joan H. Knoll, Asuri N. Prasad   +9 more
doaj   +2 more sources

Laparoscopic ultrasonography along with staging laparoscopy as a tool for staging in patients with hepatopancreaticobiliary malignancy – A prospective cohort study from a tertiary care centre

Journal of Minimal Access Surgery
Introduction: Staging laparoscopy (SL) plays an important role in avoiding unnecessary non-therapeutic laparotomy in radiologically resectable hepatopancreaticobiliary (HPB) malignancy patients.
Sanjeet Kumar Rai, Shakti Swaroop Sarangi, Krishna Asuri, Om Prakash Prajapati, Ankur Goyal, Virinder Kumar Bansal   +5 more
doaj   +2 more sources