Homocystinuria of Vitamin B<sub>6</sub> Dependent Type
نویسندگان
چکیده
منابع مشابه
Homocystinuria masquerading as vitamin B12 deficiency.
BACKGROUND Homocystinuria is a rare metabolic disorder characterized by excess homocysteine in the urine. Vitamin B12 deficiency has diverse cutaneous, nervous and ophthalmic manifestations. OBJECTIVE To report a case of homocystinuria masquerading as vitamin B 12 deficiency. CASE We hereby are presenting an interesting case of a 4 year old boy who was being treated for Vitamin B 12 deficie...
متن کاملVitamin D dependent rickets type I
Vitamin D is present in two forms, ergocalciferol (vitamin D(2)) produced by plants and cholecalciferol (vitamin D(3)) produced by animal tissues or by the action of ultraviolet light on 7-dehydrocholesterol in human skin. Both forms of vitamin D are biologically inactive pro-hormones that must undergo sequential hydroxylations in the liver and the kidney before they can bind to and activate th...
متن کاملFirst Australian report of vitamin D-dependent rickets type I.
A 20-month-old white Australian girl presented to the Women’s and Children’s Hospital in Adelaide, South Australia, with a 6-month history of developmental regression of gross motor skills, failure to thrive and irritability, in particular distress when “she was wearing her shoes”. At 14 months of age, she had been crawling, pulling to stand and cruising, but at presentation her gross motor ski...
متن کاملthe investigation of the relationship between type a and type b personalities and quality of translation
چکیده ندارد.
Vitamin D - Dependent Rickets, Type II Case Report
AIM The aim of this work the report of one case with vitamin D-dependent rickets, type II. METHODS Diagnosis has been established based on anamnesis, physical examination, laboratory findings and radiological examination. RESULTS A female child (age 25 months) has been hospitalized due to bone deformity, bone pain, alopecia and walking difficulties. The laboratory findings have revealed tha...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 1968
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.96.235