Zobrazeno 1 - 10
of 177
pro vyhledávání: '"Haq Nawaz Khan"'
Publikováno v:
Rare, Vol 1, Iss , Pp 100011- (2023)
In multiple countries, newborn screening (NBS) initiatives have provided prevalence insights for inborn errors of metabolism (IEM), but Pakistan lacks such data. Few reports exist on IEM in Pakistan, and none offer comprehensive population-based prev
Externí odkaz:
https://doaj.org/article/90cb44fd0a4f4bc0bb058cc434eaad61
Autor:
Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, Hammad Yousaf, Ghazala Zafar, Haq Nawaz Khan, Muhammad Sher, Barbara Vona, Uzma Abdullah, Naveed Altaf Malik, Joakim Klar, Stephanie Efthymiou, Niklas Dahl, Henry Houlden, Mathias Toft, Shahid Mahmood Baig, Ambrin Fatima, Zafar Iqbal
Publikováno v:
Genes, Vol 14, Iss 7, p 1404 (2023)
Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular and ocular ab
Externí odkaz:
https://doaj.org/article/4bb6934df4c1448fb3bbf409220d088a
Autor:
Memoona Yousaf, Waqas Ahmed Khan, Khurrum Shahzad, Haq Nawaz Khan, Basharat Ali, Misbah Hussain, Fazli Rabbi Awan, Hamid Mustafa, Farah Nadia Sheikh
Publikováno v:
Genes, Vol 13, Iss 9, p 1554 (2022)
Cardiac dysfunction accelerates the risk of heart failure, and its pathogenesis involves a complex interaction between genetic and environmental factors. Variations in myosin affect contractile abilities of cardiomyocytes and cause structural and fun
Externí odkaz:
https://doaj.org/article/2dcacbce832e48de93f95a6ef30921dd
Autor:
Bhavi P. Modi, Haq Nawaz Khan, Robin van der Lee, Muhammad Wasim, Charlotte A. Haaxma, Phillip A. Richmond, Britt Drögemöller, Suleman Shah, Gajja Salomons, Frans M. van der Kloet, Fred M. Vaz, Saskia N. van der Crabben, Colin J. Ross, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Fazli Rabbi Awan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100761- (2021)
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency disorder and an inborn error of metabolism presenting with progressive intellectual and neurological deterioration. As most cases are identified and treated in early childh
Externí odkaz:
https://doaj.org/article/0324e8d839f242b9b20895a59c5f16a5
Autor:
Muhammad Wasim, Haq Nawaz Khan, Hina Ayesha, Susanna M. I. Goorden, Frederic M. Vaz, Clara D. M. van Karnebeek, Fazli Rabbi Awan
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Inborn errors of metabolism (IEMs) are rare group of genetic disorders comprising of more than 1,000 different types. Around 200 of IEMs are potentially treatable through diet, pharmacological and other therapies, if diagnosed earlier in life. IEMs c
Externí odkaz:
https://doaj.org/article/1c5c97dcb3834e16b8ac0305e40dc42a
Autor:
Misbah Hussain, Haq Nawaz Khan, Shahid Abbas, Ansar Ali, Muhammad Naeem Aslam, Fazli Rabbi Awan
Publikováno v:
Nucleosides, Nucleotides & Nucleic Acids. :1-16
Autor:
Iqbal, Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, Hammad Yousaf, Ghazala Zafar, Haq Nawaz Khan, Muhammad Sher, Barbara Vona, Uzma Abdullah, Naveed Altaf Malik, Joakim Klar, Stephanie Efthymiou, Niklas Dahl, Henry Houlden, Mathias Toft, Shahid Mahmood Baig, Ambrin Fatima, Zafar
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1404
Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular and ocular ab
Autor:
Rehana Rehman, Sumaira Naz, Haq Nawaz Khan, Aisha Sheikh, Arfa Azhar, Mussarat Ashraf, Shaista Afzal, Aysha Habib Khan
Background: WHO has declared Infertility as the fifth-highest serious global disability with prevalence of approximately 22% in Pakistan; 80% due to polycystic ovarian syndrome (PCOS). PCOS is characterized by “the presence of any two out of three
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0303f7146fc79f3d34e964f279557c9
https://doi.org/10.21203/rs.3.pex-2199/v1
https://doi.org/10.21203/rs.3.pex-2199/v1
Publikováno v:
Advanced Biology.
Autor:
Humera Fiaz, Abdul Rehman Khan, Shahid Abbas, Ahmed Bilal, Haq Nawaz Khan, Misbah Hussain, Fazli Rabbi Awan
Publikováno v:
International Journal for Vitamin and Nutrition Research.
Abstract. Apart from bone related effects, vitamin D has roles in immune modulation, hypertension, diabetes and cardiovascular diseases. Metabolic functions of vitamin D are mediated after binding with vitamin D receptor (VDR). VDR polymorphisms affe