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PubPharm (211)
1
Comparison of diffusion weighted imaging b0 with T2*-weighted gradient echo or susceptibility weighted imaging for intracranial hemorrhage detection after reperfusion therapy for ischemic stroke
enthalten in:
Neuroradiology
| 2023
von
Luijten, S.
|
van der Ende, N.
|
Cornelissen, S.
| +13
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2
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
enthalten in:
International journal of neonatal screening
| 2023
von
Veldman, A.
|
Kiewiet, M.
|
Westra, D.
| +21
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3
Interobserver Agreement on Intracranial Hemorrhage on Magnetic Resonance Imaging in Patients With Ischemic Stroke
enthalten in:
Stroke
| 2023
von
van der Ende, N.
|
Luijten, S.
|
Kluijtmans, L.
| +13
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4
Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data
enthalten in:
Metabolites
| 2023
von
Bongaerts, M.
|
Kulkarni, P.
|
Zammit, A.
| +7
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5
Diagnosing, discarding, or de-VUSsing : A practical guide to (un)targeted metabolomics as variant-transcending functional tests
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Ferreira, E.
|
Veenvliet, A.
|
Engelke, U.
| +19
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6
Long-term MRI Findings in Patients With Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid
enthalten in:
Neurology
| 2022
von
Stelten, B.
|
Lycklama À Nijeholt, G.
|
Hendriks, E.
| +3
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7
Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine Hypertension
enthalten in:
Metabolites
| 2022
von
Bliziotis, N.
|
Kluijtmans, L.
|
Tinnevelt, G.
| +35
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8
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency : Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
enthalten in:
Molecular genetics and metabolism reports
| 2022
von
Veenvliet, A.
|
Garrelfs, M.
|
Udink Ten Cate, F.
| +14
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9
Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening
enthalten in:
Clinical chemistry
| 2022
von
Tseng, L.
|
Engelke, U.
|
Huigen, M.
| +9
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10
Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma
enthalten in:
Endocrine
| 2022
von
Bliziotis, N.
|
Kluijtmans, L.
|
Soto, S.
| +23
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Journal of inherited metabolic disease
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JIMD reports
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Nature genetics
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Biochimica et biophysica acta
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European journal of human genetics : EJHG
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0LVT1QZ0BA
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935E97BOY8
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Canavan disease
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Cystathionine beta-Synthase
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EC 1.5.1.20
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Folic Acid
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Methylenetetrahydrofolate Reductase (NADPH2)
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P6YC3EG204
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Vitamin B 12
7
Comparative Study
6
Intellectual Disability
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Methionine
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