Homozygous familial hypercholesterolemia

Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile consistent with FH.

Detalles Bibliográficos
Autores principales: Parihar, Ravi Kumar, Razaq, Mohd., Saini, Ghanshyam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401774/
https://www.ncbi.nlm.nih.gov/pubmed/22837934
http://dx.doi.org/10.4103/2230-8210.98032
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author Parihar, Ravi Kumar
Razaq, Mohd.
Saini, Ghanshyam
author_facet Parihar, Ravi Kumar
Razaq, Mohd.
Saini, Ghanshyam
author_sort Parihar, Ravi Kumar
collection PubMed
description Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile consistent with FH.
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spelling pubmed-34017742012-07-26 Homozygous familial hypercholesterolemia Parihar, Ravi Kumar Razaq, Mohd. Saini, Ghanshyam Indian J Endocrinol Metab Case Report Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile consistent with FH. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3401774/ /pubmed/22837934 http://dx.doi.org/10.4103/2230-8210.98032 Text en Copyright: © Indian Journal of Endocrinology and Metabolism http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Parihar, Ravi Kumar
Razaq, Mohd.
Saini, Ghanshyam
Homozygous familial hypercholesterolemia
title Homozygous familial hypercholesterolemia
title_full Homozygous familial hypercholesterolemia
title_fullStr Homozygous familial hypercholesterolemia
title_full_unstemmed Homozygous familial hypercholesterolemia
title_short Homozygous familial hypercholesterolemia
title_sort homozygous familial hypercholesterolemia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401774/
https://www.ncbi.nlm.nih.gov/pubmed/22837934
http://dx.doi.org/10.4103/2230-8210.98032
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AT razaqmohd homozygousfamilialhypercholesterolemia
AT sainighanshyam homozygousfamilialhypercholesterolemia

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