E-LIB Suche - Ergebnisse für: Blom, Henk

1

5,10‐methenyltetrahydrofolate synthetase deficiency: An ext..:

Liepina, Lelde ; Smith, Desiree E. C. ; Huidekoper, Hidde...
JIMD Reports. 65 (2024) 2 - p. 49-55 , 2024

Link: https://doi.org/10.1002/..

2

The effect of diet-induced weight loss on circulating homoc..:

Al Fatly, Meryem ; Mulder, Monique T. ; Roeters van Lennep, Jeanine..
Nutrition Journal. 23 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

Homocysteine and methylmalonic acid in Phenylketonuria pati..:

Hoss, Giovana Regina Weber ; Sperb-Ludwig, Fernanda ; Tonon, Tássia...
Genetics and Molecular Biology. 46 (2023) 3 suppl 1 - p. , 2023

Link: https://doi.org/10.1590/..

4

Goal Attainment Scale in tinnitus (GAS-T): treatment goal p..:

Wagenaar, Olav ; Gilles, Annick ; Van Rompaey, Vincent.
European Archives of Oto-Rhino-Laryngology. 281 (2023) 2 - p. 693-700 , 2023

Link: https://doi.org/10.1007/..

5

Benchmarking Outlier Detection Methods for Detecting IEM Pa..:

Bongaerts, Michiel ; Kulkarni, Purva ; Zammit, Alan...
Metabolites. 13 (2023) 1 - p. 97 , 2023

Link: https://doi.org/10.3390/..

6

Reviews and responses for The futures of the air transporta..:

Blanchard, Camille ; Delbecq, Scott ; Blom, Henk
Journal of Open Aviation Science. 1 (2023) 1 - p. , 2023

Link: https://doi.org/10.59490..

7

P561: Population-based incidence estimates of classical hom..:

Pramparo, Tiziano ; Blom, Henk ; Schwartz, Ida Vanessa..
Genetics in Medicine Open. 1 (2023) 1 - p. 100608 , 2023

Link: https://doi.org/10.1016/..

8

Integration of metabolomics with genomics: Metabolic gene p..:

Bongaerts, Michiel ; Bonte, Ramon ; Demirdas, Serwet...
Molecular Genetics and Metabolism. 136 (2022) 3 - p. 199-218 , 2022

Link: https://doi.org/10.1016/..

9

Disorders of Sulfur Amino Acid Metabolism:

, In: Inborn Metabolic Diseases,

Kožich, Viktor ; Morris, Andrew A. M. ; Blom, Henk J. - p. 407-422 , 2022

Link: https://doi.org/10.1007/..

10

Postauthorization safety study of betaine anhydrous:

Mütze, Ulrike ; Gleich, Florian ; Garbade, Sven F....
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 719-733 , 2022

Link: https://doi.org/10.1002/..

11

A Simulation Study of Risk-Aware Path Planning in Mitigatin..:

He, Xinyu ; Jiang, Chengpeng ; Li, Lishuai.
Aerospace. 9 (2022) 11 - p. 682 , 2022

Link: https://doi.org/10.3390/..

12

AbnormalVLCADDnewborn screening resemblingMADDin four neona..:

Hagemeijer, Marne C. ; Oussoren, Esmee ; Ruijter, George J. G....
JIMD Reports. 61 (2021) 1 - p. 12-18 , 2021

Link: https://doi.org/10.1002/..

13

Liver and brain differential expression of one-carbon metab..:

Imbard, Apolline ; Schwendimann, Leslie ; Lebon, Sophie...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

14

Cystathionine β‐synthase deficiency in the E‐HOD registry‐p..:

Kožich, Viktor ; Sokolová, Jitka ; Morris, Andrew A. M....
Journal of Inherited Metabolic Disease. 44 (2020) 3 - p. 677-692 , 2020

Link: https://doi.org/10.1002/..

15

Classical homocystinuria: A common inborn error of metaboli..:

Weber Hoss, Giovana R. ; Sperb‐Ludwig, Fernanda ; Schwartz, Ida V. D..
Molecular Genetics & Genomic Medicine. 8 (2020) 6 - p. , 2020

Link: https://doi.org/10.1002/..