PortalPublikationenPierson syndrome in an adolescent girl with nephrotic range ...

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.

Standard

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. / Lehnhardt, Anja; Lama, Albert; Amann, Kerstin; Matejas, Verena; Zenker, Martin; Kemper, Markus J.

in: PEDIATR NEPHROL, Jahrgang 27, Nr. 5, 5, 2012, S. 865-868.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Lehnhardt, A, Lama, A, Amann, K, Matejas, V, Zenker, M & Kemper, MJ 2012, 'Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.', PEDIATR NEPHROL, Jg. 27, Nr. 5, 5, S. 865-868. <http://www.ncbi.nlm.nih.gov/pubmed/22228401?dopt=Citation>

APA

Lehnhardt, A., Lama, A., Amann, K., Matejas, V., Zenker, M., & Kemper, M. J. (2012). Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. PEDIATR NEPHROL, 27(5), 865-868. [5]. http://www.ncbi.nlm.nih.gov/pubmed/22228401?dopt=Citation

Vancouver

Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper MJ. Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. PEDIATR NEPHROL. 2012;27(5):865-868. 5.

Bibtex

@article{b12dd9bb52f7481d9c710cfbe17d9dea,
title = "Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.",
abstract = "Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure.",
keywords = "Biopsy, Humans, Female, Adolescent, Phenotype, Angiotensin-Converting Enzyme Inhibitors/therapeutic use, Kidney/pathology, Abnormalities, Multiple/*metabolism/*physiopathology, Angiotensin II Type 1 Receptor Blockers/therapeutic use, Eye Abnormalities/*metabolism/*physiopathology, Glomerular Filtration Rate/*physiology, Laminin/genetics, Losartan/therapeutic use, Mutation/genetics/physiology, Mutation, Missense/genetics/physiology, Myopia/etiology, Nephrotic Syndrome/pathology, Proteinuria/*etiology/*physiopathology, Pupil Disorders/*metabolism/*physiopathology, Ramipril/therapeutic use, Retinal Detachment/etiology, Vision Disorders/etiology, Biopsy, Humans, Female, Adolescent, Phenotype, Angiotensin-Converting Enzyme Inhibitors/therapeutic use, Kidney/pathology, Abnormalities, Multiple/*metabolism/*physiopathology, Angiotensin II Type 1 Receptor Blockers/therapeutic use, Eye Abnormalities/*metabolism/*physiopathology, Glomerular Filtration Rate/*physiology, Laminin/genetics, Losartan/therapeutic use, Mutation/genetics/physiology, Mutation, Missense/genetics/physiology, Myopia/etiology, Nephrotic Syndrome/pathology, Proteinuria/*etiology/*physiopathology, Pupil Disorders/*metabolism/*physiopathology, Ramipril/therapeutic use, Retinal Detachment/etiology, Vision Disorders/etiology",
author = "Anja Lehnhardt and Albert Lama and Kerstin Amann and Verena Matejas and Martin Zenker and Kemper, {Markus J.}",
year = "2012",
language = "English",
volume = "27",
pages = "865--868",
journal = "PEDIATR NEPHROL",
issn = "0931-041X",
publisher = "Springer",
number = "5",

}

RIS

TY - JOUR

T1 - Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.

AU - Lehnhardt, Anja

AU - Lama, Albert

AU - Amann, Kerstin

AU - Matejas, Verena

AU - Zenker, Martin

AU - Kemper, Markus J.

PY - 2012

Y1 - 2012

N2 - Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure.

AB - Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure.

KW - Biopsy

KW - Humans

KW - Female

KW - Adolescent

KW - Phenotype

KW - Angiotensin-Converting Enzyme Inhibitors/therapeutic use

KW - Kidney/pathology

KW - Abnormalities, Multiple/metabolism/physiopathology

KW - Angiotensin II Type 1 Receptor Blockers/therapeutic use

KW - Eye Abnormalities/metabolism/physiopathology

KW - Glomerular Filtration Rate/physiology

KW - Laminin/genetics

KW - Losartan/therapeutic use

KW - Mutation/genetics/physiology

KW - Mutation, Missense/genetics/physiology

KW - Myopia/etiology

KW - Nephrotic Syndrome/pathology

KW - Proteinuria/etiology/physiopathology

KW - Pupil Disorders/metabolism/physiopathology

KW - Ramipril/therapeutic use

KW - Retinal Detachment/etiology

KW - Vision Disorders/etiology

KW - Biopsy

KW - Humans

KW - Female

KW - Adolescent

KW - Phenotype

KW - Angiotensin-Converting Enzyme Inhibitors/therapeutic use

KW - Kidney/pathology

KW - Abnormalities, Multiple/metabolism/physiopathology

KW - Angiotensin II Type 1 Receptor Blockers/therapeutic use

KW - Eye Abnormalities/metabolism/physiopathology

KW - Glomerular Filtration Rate/physiology

KW - Laminin/genetics

KW - Losartan/therapeutic use

KW - Mutation/genetics/physiology

KW - Mutation, Missense/genetics/physiology

KW - Myopia/etiology

KW - Nephrotic Syndrome/pathology

KW - Proteinuria/etiology/physiopathology

KW - Pupil Disorders/metabolism/physiopathology

KW - Ramipril/therapeutic use

KW - Retinal Detachment/etiology

KW - Vision Disorders/etiology

M3 - SCORING: Journal article

VL - 27

SP - 865

EP - 868

JO - PEDIATR NEPHROL

JF - PEDIATR NEPHROL

SN - 0931-041X

IS - 5

M1 - 5

ER -