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1.
On pathways and blind alleys-The importance of biomarkers in vitamin B6 -dependent epilepsies.
J Inherit Metab Dis
; 46(5): 839-847, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37428623
2.
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
J Inherit Metab Dis
; 46(1): 129-142, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36225138
3.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36221165
4.
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency.
Neuropediatrics
; 54(6): 422-425, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-36577449
5.
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet
; 59(7): 662-668, 2022 07.
Article
in English
| MEDLINE | ID: mdl-34379057
6.
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
J Med Genet
; 59(10): 957-964, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-34916232
7.
Lipidomics-Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases.
Int J Mol Sci
; 24(2)2023 Jan 15.
Article
in English
| MEDLINE | ID: mdl-36675224
8.
Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.
Int J Mol Sci
; 24(6)2023 Mar 22.
Article
in English
| MEDLINE | ID: mdl-36983033
9.
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.
J Inherit Metab Dis
; 45(2): 235-247, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34671989
10.
100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.
J Inherit Metab Dis
; 45(2): 144-156, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34595757
11.
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
Brain
; 144(10): 3036-3049, 2021 11 29.
Article
in English
| MEDLINE | ID: mdl-34037727
12.
Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitis.
Neuroimage
; 239: 118281, 2021 10 01.
Article
in English
| MEDLINE | ID: mdl-34147627
13.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33106617
14.
Project "Backtoclinic I": An overview on the state of care of adult PKU patients in Austria.
Mol Genet Metab
; 133(3): 257-260, 2021 07.
Article
in English
| MEDLINE | ID: mdl-34083143
15.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32808683
16.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33200442
17.
LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies.
J Inherit Metab Dis
; 43(5): 1102-1111, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32319100
18.
Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
J Inherit Metab Dis
; 43(4): 891-900, 2020 07.
Article
in English
| MEDLINE | ID: mdl-31930735
19.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Article
in English
| MEDLINE | ID: mdl-31135052
20.
Efficacy of a standardized tube weaning program in pediatric patients with feeding difficulties after successful repair of their esophageal atresia/tracheoesophageal fistula.
Eur J Pediatr
; 179(11): 1729-1737, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32415337