Correction to: Orphanet Journal of Rare Diseases (2020) 15:42

https://doi.org/10.1186/s13023-019-1277-0

Following the original article’s publication [1] the authors informed us of the following errors:

1. Author M. Estela Rubio Gozalbo’s first and last names were captured incorrectly. The author’s first names are M. Estela, while last names are Rubio Gozalbo.

The correct author’s name has been updated in the original article [1] and shown in the author list of this Correction.

2. In Table 2 ‘Digit span’ and ‘GIT-2’ are tests and should be preceded by a - just like the other tests in the table.

Furthermore, ‘Responses’ is not a domain and should therefore be deleted.

Finally, ‘Cconceptual’ should be corrected to ‘conceptual’.

The table is shown here corrected.

Table 2 Cognitive Functioning Results

3. The grey box for ‘test result better than expected’ is missing from the legends of Tables 4 and 5.

The two tables with their respective legends are shown here corrected.

Table 4 Individual Results, Adult Patients
Table 5 Individual Results, Pediatric Patients

4. In the 'Results' section under ‘Demographics’, the following sentence is incorrect: “In the pre-NBS group (n = 30) (diagnosis based on clinical symptoms), with the exception of the late diagnosed p.Ser135Leu patients, the diet was started at a median age of 10 days [6, 39].” The references 6,39 are in fact a range. The sentence should therefore be corrected to read: “...the diet was started at a median age of 10 days (6-39).”

5. In Table S8 of the Additional file 1, some rows have shifted. ‘Anxiety & Depression’ and ‘Social Functioning’ should be shown on separate lines. HADS should be in line with ‘Anxiety & Depression’ and SRS with ‘Social Functioning’.

In addition, subsequent references should be renumbered as 35–49.

The corrected Additional file 1 accompanies this Correction.