Skip to main content
Leiden University
Scholarly Publications
Home
Submit
About
Select Collection
All collections
Academic speeches
Dissertations
Faculty of Archaeology
Faculty of Governance and Global Affairs
Faculty of Humanities
Faculty of Science
Faculty of Social and Behavioural Sciences
Leiden Journals, Conference Proceedings and Books
Leiden Law School
Leiden University Press
Medicine / Leiden University Medical Centre (LUMC)
Research output UL
Search box
Your Search
Enabled Filters
(-)
= Molecular Genetics and Metabolism
Sort Options
Date (year)
Author / Creator
Title
Refine Results
Resource Type
Article / Letter to editor
(9)
+
-
Abstract
(2)
+
-
Availability
Open access
(10)
+
-
Metadata Only
(1)
+
-
Creation Date
2020
(3)
+
-
2021
(3)
+
-
2018
(2)
+
-
2023
(2)
+
-
Faculty
Faculty of Science
(6)
+
-
Faculty of Social and Behavioural Sciences
(2)
+
-
Leiden University Medical Center (LUMC)
(3)
+
-
Collection
Leiden Institute of Chemistry (LIC)
(5)
+
-
Medicine / Leiden University Medical Centre (LUMC)
(3)
+
-
Institute of Education and Child Studies
(2)
+
-
Author
Aerts, J.M.F.G.
(5)
+
-
Boon, C.J.F.
(2)
+
-
Hollak, C.E.M.
(2)
+
-
Huijbregts, S.C.J.
(2)
+
-
Romani, C.
(2)
+
-
Sjouke, B.
(2)
+
-
Spronsen, F.J. van
(2)
+
-
Show more
Language
en
(11)
+
-
Search results
(1 - 11 of 11)
show grid
show list
save search
Recent developments in the analytical approaches of acyl-CoAs to assess their role in mitochondrial fatty acid oxidation disorders
Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes
Correlations of blood and brain biochemistry in phenylketonuria
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)
Defining tetrahydrobiopterin responsiveness in phenylketonuria
Biochemical and imaging parameters in acid sphingomyelinase deficiency: potential utility as biomarkers
Lyso-Gb3 is not a predictive biomarker of treatment response in migalastat-treated patients with migalastat-amenable variants
Inflammation and its alleviation in a fly model for neuronopathic Gaucher disease
Dissociation of globotriaosylceramide and impaired endothelial function in α-galactosidase-A deficient EA.hy926 cells
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG