Lubout C - Search Results

Year	Number of Results
2007	1
2012	1
2017	1
2018	4
2019	3
2020	3
2021	4
2022	5
2023	3
2024	4
2025	2

1

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.

Schwahn BC, van Spronsen F, Misko A, Pavaine J, Holmes V, Spiegel R, Schwarz G, Wong F, Horman A, Pitt J, Sass JO, Lubout C. Schwahn BC, et al. Among authors: lubout c. J Inherit Metab Dis. 2024 Jul;47(4):598-623. doi: 10.1002/jimd.12730. Epub 2024 Apr 16. J Inherit Metab Dis. 2024. PMID: 38627985

2

Continuous glucose monitoring metrics in people with liver glycogen storage disease and idiopathic ketotic hypoglycemia: A single-center, retrospective, observational study.

Overduin RJ, Venema A, Lubout CMA, Fokkert-Wilts MJ, De Boer F, Schreuder AB, Rossi A, Derks TGJ. Overduin RJ, et al. Among authors: lubout cma. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108573. doi: 10.1016/j.ymgme.2024.108573. Epub 2024 Aug 30. Mol Genet Metab. 2024. PMID: 39243574 Free article.

3

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ; Study Group on Missed PKU and Missed to Follow-Up. van Wegberg AMJ, et al. J Pediatr. 2021 Dec;239:231-234.e2. doi: 10.1016/j.jpeds.2021.08.070. Epub 2021 Aug 30. J Pediatr. 2021. PMID: 34474089 Free article.

4

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.

Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. Shelkowitz E, et al. Among authors: lubout cma. Orphanet J Rare Dis. 2022 Dec 5;17(1):423. doi: 10.1186/s13023-022-02581-6. Orphanet J Rare Dis. 2022. PMID: 36471344 Free PMC article.

5

High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.

Eskandari SK, Revenich EGM, Pot DJ, de Boer F, Bierings M, van Spronsen FJ, van Hasselt PM, Lindemans CA, Lubout CMA. Eskandari SK, et al. Among authors: lubout cma. N Engl J Med. 2024 Feb 15;390(7):623-629. doi: 10.1056/NEJMoa2313398. N Engl J Med. 2024. PMID: 38354141

6

Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective.

Haitjema S, Lubout CMA, Zijlstra JHM, Wolffenbuttel BHR, van Spronsen FJ. Haitjema S, et al. Among authors: lubout cma. Nutrients. 2022 Sep 23;14(19):3961. doi: 10.3390/nu14193961. Nutrients. 2022. PMID: 36235614 Free PMC article.

7

The first European guidelines on phenylketonuria: Usefulness and implications for BH₄ responsiveness testing.

Evers RAF, van Wegberg AMJ, Anjema K, Lubout CMA, van Dam E, van Vliet D, Blau N, van Spronsen FJ. Evers RAF, et al. Among authors: lubout cma. J Inherit Metab Dis. 2020 Mar;43(2):244-250. doi: 10.1002/jimd.12173. Epub 2019 Nov 20. J Inherit Metab Dis. 2020. PMID: 31503351

8

Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.

Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. Shelkowitz E, et al. Among authors: lubout cma. Orphanet J Rare Dis. 2023 Mar 13;18(1):54. doi: 10.1186/s13023-023-02646-0. Orphanet J Rare Dis. 2023. PMID: 36915141 Free PMC article. No abstract available.

9

Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.

Lubout CMA, Derks TGJ, Meiners L, Erwich JJ, Bergman KA, Lunsing RJ, Schwarz G, Veldman A, van Spronsen FJ. Lubout CMA, et al. Eur J Paediatr Neurol. 2018 May;22(3):536-540. doi: 10.1016/j.ejpn.2017.11.006. Epub 2017 Nov 28. Eur J Paediatr Neurol. 2018. PMID: 29274890

10

Dietary treatment in Dutch children with phenylketonuria: An inventory of associated social restrictions and eating problems.

Haitjema S, Lubout CMA, Abeln D, Bruijn-van der Veen M, MacDonald A, Wolffenbuttel BHR, van Spronsen FJ. Haitjema S, et al. Among authors: lubout cma. Nutrition. 2022 May;97:111576. doi: 10.1016/j.nut.2021.111576. Epub 2021 Dec 24. Nutrition. 2022. PMID: 35248849 Free article.

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