Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Sommayya Aftab"'
Autor:
Sabeen Abid Khan FCPS, FRCPCH, Sommayya Aftab FCPS, FRCPCH, Yasir Naqi Khan MCPS, Mehrunnisa Yasir FCPS, Kashan Arshad FCPS, Noor ul Ain Mehak FCPS, Syed Kaleem ur Rehman MRCPCH, Abida Faiztalpur FCPS, MRCPCH, Shazia Bahar MRCPCH, Ayesha Abdul Razzaq FCPS, Sajjad Habibullah MD, Aamir Naseem FCPS, Syed Saddam Hussain FCPS, Hina Sattar FCPS, Mohammed Usman FCPS, Aqeela Ayub FCPS, Rehmana Waris FCPS, Taeed Ahmed Butt DCH, MRCP
Publikováno v:
Global Pediatric Health, Vol 11 (2024)
Objective . Congenital hypothyroidism (CH) is a treatable condition with a good outcome if diagnosed promptly. However, neonatal screening programs are not routinely available in developing countries in Pakistan. Method . To highlight the practices o
Externí odkaz:
https://doaj.org/article/199446eabdc54c0fa4c57d67986b7ae6
Autor:
Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, Antonia Dastamani, Ellada Sotiridou, Clare Gilbert, Sarah E Flanagan, Anatoly Tiulpakov, Maria Melikyan, Pratik Shah
Publikováno v:
Endocrine Connections, Vol 12, Iss 4, Pp 1-7 (2023)
Background: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism caused by an activating GLUD1 mutation. Objective: The aim of this study was to determine the clinical profile and long-term neur
Externí odkaz:
https://doaj.org/article/880f7ca7eaf7476fabee9019cd87379d
Autor:
Ellada Sotiridou, Henrike Hoermann, Sommayya Aftab, Antonia Dastamani, Eva Thimm, Louise Doodson, Spyros Batzios, Sebastian Kummer, Pratik Shah
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-4 (2021)
Tyrosinaemia type 1 (TT1) is a rare inherited disorder of amino acid metabolism typically presenting with liver failure and renal tubular dysfunction. We describe three individuals with TT1 and transient hyperinsulinaemic hypoglycaemia (HH). Two sibl
Externí odkaz:
https://doaj.org/article/13c3a7629cc84fa59a35adedd4041721
Autor:
Sommayya Aftab, Tahir Shaheen, Rameen Asif, Muhammad Nadeem Anjum, Anjum Saeed, Jaida Manzoor, Huma Arshad Cheema
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:1429-1432
Objectives Rabson Mendenhall syndrome (RMS) is a rare form of insulin resistance syndrome caused by insulin receptor mutation. In term of severity, it lies at an intermediate point on spectrum of insulin resistance with Donohue syndrome flanking the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06ef6041d78d2dfddc6af40dc5d969a5
https://doi.org/10.1515/jpem-2022-0214
https://doi.org/10.1515/jpem-2022-0214
Publikováno v:
Cureus.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7440125819fa1a8c36014af9bb080e9f
https://doi.org/10.7759/cureus.39181
https://doi.org/10.7759/cureus.39181
Autor:
Sommayya Aftab, Sabeen Abid Khan, Munir Iqbal Malik, Ahmed Imran, Muhammad Nadeem Anjum, Anjum Saeed, Abid Ali Qureshi, Huma Arshad Cheema
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Objectives Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of CYP27B1. It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic rickets. In developing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59c05fa91347dbefb970e0efe5a1d6fa
https://doi.org/10.1515/jpem-2022-0550
https://doi.org/10.1515/jpem-2022-0550
Autor:
Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, Antonia Dastamani, Ellada Sotiridou, Clare Gilbert, Sarah E Flanagan, Anatoly Tiulpakov, Maria Melikyan, Pratik Shah
Publikováno v:
Endocrine connections.
Background Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism caused by an activating GLUD1 mutation. Objective The aim of this study was to determine the clinical profile and long-term neurol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9227de70319edddb420234c924719466
https://pubmed.ncbi.nlm.nih.gov/35951311
https://pubmed.ncbi.nlm.nih.gov/35951311
Publikováno v:
Pakistan Journal of Medical and Health Sciences. 16:704-705
Objective: To determine the clinical spectrum and etiology of pediatric fulminant hepatic failure (FHF) in Pakistan. Study Design: Prospective, cross sectional study Place and Duration of Study: Department of Pediatric Gastroenterology, Hepatology &
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::beeef24aabe50e3def68cf4a5ff2b54f
https://doi.org/10.53350/pjmhs22165704
https://doi.org/10.53350/pjmhs22165704
Publikováno v:
Pakistan journal of medical sciences. 38(4Part-II)
Objectives: To determine the clinical spectrum and underlying etiologies of children presented with precocious puberty at The Children’s Hospital &The Institute of Child health, Lahore. Methods: It is a retrospective review of all the children pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ae4221ada128a7917b03fa3ff665e32
https://pubmed.ncbi.nlm.nih.gov/35634621
https://pubmed.ncbi.nlm.nih.gov/35634621
Autor:
Pratik Shah, Henrike Hoermann, Antonia Dastamani, Spyros Batzios, Ellada Sotiridou, Sommayya Aftab, Sebastian Kummer, Eva Thimm, Louise Doodson
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-4 (2021)
Endocrinology, Diabetes & Metabolism Case Reports
Endocrinology, Diabetes & Metabolism Case Reports
Summary Tyrosinaemia type 1 (TT1) is a rare inherited disorder of amino acid metabolism typically presenting with liver failure and renal tubular dysfunction. We describe three individuals with TT1 and transient hyperinsulinaemic hypoglycaemia (HH).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d4f6bd8b4769281c0e3e8206d9772b
https://doi.org/10.1530/edm-20-0174
https://doi.org/10.1530/edm-20-0174