Difference between revisions of "Lysosomal acid lipase deficiency"

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(Created page with "'''Lysosomal acid lipase deficiency''', abbreviated as '''LAL-D''', is a lysosomal storage disorder that is inherited autosomal recessive.<ref>{{Cite journal | last1 = Re...")
 
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'''Lysosomal acid lipase deficiency''', abbreviated as '''LAL-D''', is a [[lysosomal storage disorder]] that is inherited autosomal recessive.<ref>{{Cite journal  | last1 = Reiner | first1 = Ž. | last2 = Guardamagna | first2 = O. | last3 = Nair | first3 = D. | last4 = Soran | first4 = H. | last5 = Hovingh | first5 = K. | last6 = Bertolini | first6 = S. | last7 = Jones | first7 = S. | last8 = Ćorić | first8 = M. | last9 = Calandra | first9 = S. | title = Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. | journal = Atherosclerosis | volume = 235 | issue = 1 | pages = 21-30 | month = Jul | year = 2014 | doi = 10.1016/j.atherosclerosis.2014.04.003 | PMID = 24792990 }}</ref>
'''Lysosomal acid lipase deficiency''', abbreviated as '''LAL-D''', is a [[lysosomal storage disorder]] that is inherited autosomal recessive.<ref>{{Cite journal  | last1 = Reiner | first1 = Ž. | last2 = Guardamagna | first2 = O. | last3 = Nair | first3 = D. | last4 = Soran | first4 = H. | last5 = Hovingh | first5 = K. | last6 = Bertolini | first6 = S. | last7 = Jones | first7 = S. | last8 = Ćorić | first8 = M. | last9 = Calandra | first9 = S. | title = Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. | journal = Atherosclerosis | volume = 235 | issue = 1 | pages = 21-30 | month = Jul | year = 2014 | doi = 10.1016/j.atherosclerosis.2014.04.003 | PMID = 24792990 }}</ref>
==General==
*Diagnosis clinical: dried blood spot testing.
==Microscopic==
Features:
*Microvesicular or mixed steatosis (microvesicular and macrovesicular).
DDx:
*[[Microvesicular steatosis]].


==References==
==References==
{{Reflist|1}}
{{Reflist|1}}


[[Category:Diagnosis]]
[[Category:Gastrointestinal pathology]]
[[Category:Gastrointestinal pathology]]
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