نتایج جستجو برای: homocystinuria

تعداد نتایج: 575  

Journal: :Case reports in urology 2023

Priapism is a prolonged involuntary erection that can have severe complications if left untreated. Ischaemic priapism very rare in children and requires urgent intervention to prevent permanent erectile dysfunction penile shortening. It be caused by ischaemia sickle cell anaemia, leukaemia, trauma, drugs, or idiopathy. Homocystinuria autosomal recessive disorder cause hyperhomocysteinemia hyper...

Journal: :International Journal of Research in Medical Sciences 2016

Journal: :The Journal of clinical investigation 1965
L Laster S H Mudd J D Finkelstein F Irreverre

Journal: :Journal of Inherited Metabolic Disease 2017

Journal: :BMJ case reports 2017
Arushi Gahlot Saini Hansashree Padmanabha Savita Attri Pratibha Singhi

Saini AG, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-220296 DESCRIPTION An 8-year-old girl with intellectual disability and severe myopia presented with subacute bilateral painless loss of vision. Anthropometric examination showed a weight of 26 kg (−0.1 Z score), height of 122.5 cm (between −1 and −2 Z score), arm span of 129 cm (6.5 cm longer than the height) and head circumference of 51 ...

Journal: :Journal of Clinical Investigation 2016

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