Familial LCAT deficiency: from renal replacement to enzyme replacement

R. M. Stoekenbroek; M. A. van den Bergh Weerman; G. K. Hovingh; B. J. Potter van Loon; C. E. H. Siegert; A. G. Holleboom

Familial LCAT deficiency: from renal replacement to enzyme replacement

R. M. Stoekenbroek, M. A. van den Bergh Weerman, G. K. Hovingh, B. J. Potter van Loon, C. E. H. Siegert, A. G. Holleboom

Research output: Contribution to journal › Article › Academic › peer-review

12 Citations (Scopus)

Abstract

Familial LCAT deficiency (FLD) is a recessive lipid disorder ultimately leading to end-stage renal disease (ESRD). We present two brothers with considerable variation in the age at which they developed ESRD. Kidney biopsies revealed both tubular and glomerular pathology. To date, no causal therapy is available, yet enzyme replacement therapy is in development

Original language	English
Pages (from-to)	29-31
Journal	Netherlands journal of medicine
Volume	71
Issue number	1
Publication status	Published - 2013

Cite this

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title = "Familial LCAT deficiency: from renal replacement to enzyme replacement",

abstract = "Familial LCAT deficiency (FLD) is a recessive lipid disorder ultimately leading to end-stage renal disease (ESRD). We present two brothers with considerable variation in the age at which they developed ESRD. Kidney biopsies revealed both tubular and glomerular pathology. To date, no causal therapy is available, yet enzyme replacement therapy is in development",

author = "Stoekenbroek, {R. M.} and {van den Bergh Weerman}, {M. A.} and Hovingh, {G. K.} and {Potter van Loon}, {B. J.} and Siegert, {C. E. H.} and Holleboom, {A. G.}",

year = "2013",

language = "English",

volume = "71",

pages = "29--31",

journal = "Netherlands journal of medicine",

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TY - JOUR

T1 - Familial LCAT deficiency: from renal replacement to enzyme replacement

AU - Stoekenbroek, R. M.

AU - van den Bergh Weerman, M. A.

AU - Hovingh, G. K.

AU - Potter van Loon, B. J.

AU - Siegert, C. E. H.

AU - Holleboom, A. G.

PY - 2013

Y1 - 2013

N2 - Familial LCAT deficiency (FLD) is a recessive lipid disorder ultimately leading to end-stage renal disease (ESRD). We present two brothers with considerable variation in the age at which they developed ESRD. Kidney biopsies revealed both tubular and glomerular pathology. To date, no causal therapy is available, yet enzyme replacement therapy is in development

AB - Familial LCAT deficiency (FLD) is a recessive lipid disorder ultimately leading to end-stage renal disease (ESRD). We present two brothers with considerable variation in the age at which they developed ESRD. Kidney biopsies revealed both tubular and glomerular pathology. To date, no causal therapy is available, yet enzyme replacement therapy is in development

M3 - Article

C2 - 23412821

SN - 0300-2977

VL - 71

SP - 29

EP - 31

JO - Netherlands journal of medicine

JF - Netherlands journal of medicine

IS - 1

ER -