MEGDEL Syndrome: Expanding the Phenotype and New Mutations

S Sequeira; M Rodrigues; S Jacinto; RA Wevers; Saskia Wortmann

doi:10.1055/s-0037-1602833

MEGDEL Syndrome: Expanding the Phenotype and New Mutations

S Sequeira, M Rodrigues, S Jacinto, RA Wevers, Saskia Wortmann (Last author)

Department of Pediatrics

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

10 Citations (Web of Science)

Original language	English
Pages (from-to)	382-384
Journal	NEUROPEDIATRICS
Volume	48
Issue number	5
DOIs	https://doi.org/10.1055/s-0037-1602833
Publication status	Published - 2017

Keywords

INTRACELLULAR CHOLESTEROL TRAFFICKING
3-METHYLGLUTACONIC ACIDURIA
DEAFNESS
SERAC1
ENCEPHALOPATHY
DYSTONIA

Access to Document

10.1055/s-0037-1602833

Cite this

Sequeira, S., Rodrigues, M., Jacinto, S., Wevers, RA., & Wortmann, S. (2017). MEGDEL Syndrome: Expanding the Phenotype and New Mutations. NEUROPEDIATRICS , 48(5), 382-384. https://doi.org/10.1055/s-0037-1602833

Sequeira, S ; Rodrigues, M ; Jacinto, S et al. / MEGDEL Syndrome: Expanding the Phenotype and New Mutations. In: NEUROPEDIATRICS 2017 ; Vol. 48, No. 5. pp. 382-384.

@article{07f08b5696d64658871d32ba54f8de07,

title = "MEGDEL Syndrome: Expanding the Phenotype and New Mutations",

keywords = "INTRACELLULAR CHOLESTEROL TRAFFICKING, 3-METHYLGLUTACONIC ACIDURIA, DEAFNESS, SERAC1, ENCEPHALOPATHY, DYSTONIA",

author = "S Sequeira and M Rodrigues and S Jacinto and RA Wevers and Saskia Wortmann",

note = "Wortmann: Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria",

year = "2017",

doi = "10.1055/s-0037-1602833",

language = "English",

volume = "48",

pages = "382--384",

journal = "NEUROPEDIATRICS ",

issn = "0174-304X",

publisher = "Thieme Medical Publishers, US ",

number = "5",

}

Sequeira, S, Rodrigues, M, Jacinto, S, Wevers, RA & Wortmann, S 2017, 'MEGDEL Syndrome: Expanding the Phenotype and New Mutations', NEUROPEDIATRICS , vol. 48, no. 5, pp. 382-384. https://doi.org/10.1055/s-0037-1602833

MEGDEL Syndrome: Expanding the Phenotype and New Mutations. / Sequeira, S; Rodrigues, M; Jacinto, S et al.
In: NEUROPEDIATRICS , Vol. 48, No. 5, 2017, p. 382-384.

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

TY - JOUR

T1 - MEGDEL Syndrome: Expanding the Phenotype and New Mutations

AU - Sequeira, S

AU - Rodrigues, M

AU - Jacinto, S

AU - Wevers, RA

AU - Wortmann, Saskia

N1 - Wortmann: Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria

PY - 2017

Y1 - 2017

KW - INTRACELLULAR CHOLESTEROL TRAFFICKING

KW - 3-METHYLGLUTACONIC ACIDURIA

KW - DEAFNESS

KW - SERAC1

KW - ENCEPHALOPATHY

KW - DYSTONIA

U2 - 10.1055/s-0037-1602833

DO - 10.1055/s-0037-1602833

M3 - Original Article

C2 - 28505671

SN - 0174-304X

VL - 48

SP - 382

EP - 384

JO - NEUROPEDIATRICS

JF - NEUROPEDIATRICS

IS - 5

ER -

Sequeira S, Rodrigues M, Jacinto S, Wevers RA, Wortmann S. MEGDEL Syndrome: Expanding the Phenotype and New Mutations. NEUROPEDIATRICS . 2017;48(5):382-384. doi: 10.1055/s-0037-1602833