Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.

Eva M M Hoytema van Konijnenburg; Saskia Wortmann; Marina J Koelewijn; Laura A Tseng; Roderick Houben; Sylvia Stöckler-Ipsiroglu; Carlos R Ferreira; Clara D M van Karnebeek

doi:10.1186/s13023-021-01727-2

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.

Eva M M Hoytema van Konijnenburg
, Saskia Wortmann (First author)
, Marina J Koelewijn
, Laura A Tseng
, Roderick Houben
, Sylvia Stöckler-Ipsiroglu
, Carlos R Ferreira
, Clara D M van Karnebeek

Department of Pediatrics

Research output: Contribution to journal › Review article › peer-review

76 Citations (Web of Science)

Original language	English
Pages (from-to)	170
Journal	ORPHANET JOURNAL OF RARE DISEASES
Volume	16
Issue number	1
DOIs	https://doi.org/10.1186/s13023-021-01727-2
Publication status	Published - 2021

Access to Document

10.1186/s13023-021-01727-2

Cite this

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title = "Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.",

author = "\{Hoytema van Konijnenburg\}, \{Eva M M\} and Saskia Wortmann and Koelewijn, \{Marina J\} and Tseng, \{Laura A\} and Roderick Houben and Sylvia St{\"o}ckler-Ipsiroglu and Ferreira, \{Carlos R\} and \{van Karnebeek\}, \{Clara D M\}",

note = "Wortmann: University Children{\textquoteright}s Hospital, Paracelsus Medical University, Salzburg, Austria",

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AU - Hoytema van Konijnenburg, Eva M M

AU - Wortmann, Saskia

AU - Koelewijn, Marina J

AU - Tseng, Laura A

AU - Houben, Roderick

AU - Stöckler-Ipsiroglu, Sylvia

AU - Ferreira, Carlos R

AU - van Karnebeek, Clara D M

N1 - Wortmann: University Children’s Hospital, Paracelsus Medical University, Salzburg, Austria

PY - 2021

Y1 - 2021

U2 - 10.1186/s13023-021-01727-2

DO - 10.1186/s13023-021-01727-2

M3 - Review article

C2 - 33845862

SN - 1750-1172

VL - 16

SP - 170

JO - ORPHANET JOURNAL OF RARE DISEASES

JF - ORPHANET JOURNAL OF RARE DISEASES

IS - 1

ER -