Work

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

Year: 2011

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2011.126

Authors: Kaja K Selmer, Gregor D Gilfillan, Petter Strømme, Robert Lyle, Timothy Hughes, Hanne S Hjorthaug, Kristin Brandal, Sigve Nakken, Doriana Misceo, Thore Egeland, Ludvig A Munthe, Sigrun K Braekken, Dag E Undlien

Institutions: Oslo University Hospital, University of Oslo, Norwegian University of Life Sciences

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Norges Forskningsråd

OpenAlex ID: W2044546010

FWCI: 1.088

Cites: 23

Cited by: 26

Related to: 10