Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient

Por Sunita Bijarnia‐Mahay, Vivek Jain, Beat Thöny
Publicado em 2020-05-01

Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing

Por Neerja Gupta, Gaurav Verma, Madhulika Kabra, Sunita Bijarnia-Mahay, Aparna Ganapathy
Publicado em 2018-01-01

Case series of creatine deficiency syndrome due to guanidinoacetate methyltransferase deficiency

Por Vinu Narayan, Sunita Bijarnia Mahay, Ishwar Chander Verma, Ratna Dua Puri
Publicado em 2020-01-01

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

Por Veronica Arora, Sunita Bijarnia-Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma
Publicado no Autopsy and Case Reports (2019)

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn...

Por Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C. Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi
Publicado em 2018-09-01

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

Por Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami
Publicado em 2020-11-01