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Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme.
Lipid storage diseases can be inherited two ways: Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent show signs and symptoms of the condition and is not affected by the disorder. Each child born to these parents have a 25 percent chance of inheriting both copies of the ...
The dictionary was edited by the honorary director general of the board Maulvi Abdul Haq who had already been working on an Urdu dictionary since the establishment of the Urdu Dictionary Board, Karachi, in 1958. [1] [2] [3] Urdu Lughat consists of 22 volumes. In 2019, the board prepared a short concise version of the dictionary in 2 volumes.
Free sialic acid storage disease; Freeman–Sheldon syndrome; Freiberg's disease; Freire–Maia odontotrichomelic syndrome; Freire–Maia–Pinheiro–Opitz syndrome; Frenkel–Russe syndrome; Frey's syndrome; Frias syndrome; Fried–Goldberg–Mundel syndrome; Friedel–Heid–Grosshans syndrome; Friedman–Goodman syndrome; Friedreich ataxia ...
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
The Urdu Dictionary Board (Urdu: اردو لغت بورڈ, romanized: Urdu Lughat Board) is an academic and literary institution of Pakistan, administered by National History and Literary Heritage Division of the Ministry of Information & Broadcasting. Its objective is to edit and publish a comprehensive dictionary of the Urdu language.
Farhang-e-Asifiya (Urdu: فرہنگ آصفیہ, lit. 'The Dictionary of Asif') is an Urdu-to-Urdu dictionary compiled by Syed Ahmad Dehlvi. [1] It has more than 60,000 entries in four volumes. [2] It was first published in January 1901 by Rifah-e-Aam Press in Lahore, present-day Pakistan. [3] [4]
Feroz-ul-Lughat Urdu Jamia (Urdu: فیروز الغات اردو جامع) is an Urdu-to-Urdu dictionary published by Ferozsons (Private) Limited. It was originally compiled by Maulvi Ferozeuddin in 1897. The dictionary contains about 100,000 ancient and popular words, compounds, derivatives, idioms, proverbs, and modern scientific, literary ...