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» Authors » Bibiche den Hollander

Bibiche den Hollander

Explore the profile of Bibiche den Hollander including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 12
Citations 30
Followers 0
Related Specialties
Endocrinology
General Medicine
Neurology
Top 10 Co-Authors
Marion M Brands
Reinout A Bem
Peter van Essen
Clara D van Karnebeek
Clara D M van Karnebeek
Agnies M Van Eeghen
Peter M van de Ven
Annelieke R Muller
Job B M van Woensel
Hoang Lan Le
Published In
J Inherit Metab Dis
Contemp Clin Trials Commun
Mol Genet Metab
BMJ Open
Pathogens
Affiliations
Soon will be listed here.
Recent Articles
1.
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
den Hollander B, Hoytema van Konijnenburg E, Hewitson B, van der Meijden J, Balfoort B, Winter B, et al.
J Inherit Metab Dis . 2025 Jan; 48(1):e12835. PMID: 39777714
Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized...
2.
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review
den Hollander B, Le H, Swart E, Bikker H, Hollak C, Brands M
Mol Genet Metab . 2024 Aug; 143(1-2):108556. PMID: 39116528
Rationale: Gaucher disease (GD), an autosomal recessive lysosomal storage disease, results from GBA1 variants causing glucocerebrosidase (GCase) deficiency. While enzyme replacement therapy (ERT) helps with systemic symptoms, neurological complications in...
3.
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability
Muller A, van Silfhout N, den Hollander B, Kampman D, Bakkum L, Brands M, et al.
Ther Adv Rare Dis . 2024 Apr; 5:26330040241245721. PMID: 38681798
Background: Individuals with genetic neurodevelopmental disorders (GNDs) or intellectual disability (ID) are often affected by complex neuropsychiatric comorbidities. Targeted treatments are increasingly available, but due to the heterogeneity of these...
4.
Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials" [Contemp. Clin. Trials Commun. 36 (2023)/ DOI:...
den Hollander B, Rothuizen-Lindenschot M, Geertjens L, Vaz F, Brands M, Le H, et al.
Contemp Clin Trials Commun . 2024 Mar; 38:101264. PMID: 38533474
[This corrects the article DOI: 10.1016/j.conctc.2023.101233.].
5.
Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen
den Hollander B, Brands M, Nijhuis I, Doude van Troostwijk L, van Essen P, Hofsteenge G, et al.
Mol Genet Metab . 2024 Feb; 142(1):108347. PMID: 38401382
Rationale: Lipoprotein lipase (LPL) deficiency, a rare inherited metabolic disorder, is characterized by high triglyceride (TG) levels and life-threatening acute pancreatitis. Current treatment for pediatric patients involves a lifelong severely...
6.
Effectiveness of L-serine supplementation in children with a loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials
den Hollander B, Rothuizen-Lindenschot M, Geertjens L, Vaz F, Brands M, Le H, et al.
Contemp Clin Trials Commun . 2023 Dec; 36:101233. PMID: 38144875
Rationale: Loss-of-function (LoF) mutations in result in neurologic abnormalities due to -methyl-D-aspartate receptor (NMDAR) dysfunction. Affected persons present with various symptoms, including intellectual developmental disability (IDD), hypotonia, communication deficits, motor...
7.
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study
den Hollander B, Brands M, de Boer L, Haaxma C, Lengyel A, van Essen P, et al.
J Inherit Metab Dis . 2023 Jun; 46(5):956-971. PMID: 37340906
NANS-CDG is a congenital disorder of glycosylation (CDG) caused by biallelic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. It presents with intellectual developmental disorder...
8.
Skills or Pills: Randomized Trial Comparing Hypnotherapy to Medical Treatment in Children With Functional Nausea
Browne P, de Bruijn C, Speksnijder E, den Hollander B, van Wering H, Wessels M, et al.
Clin Gastroenterol Hepatol . 2021 Oct; 20(8):1847-1856.e6. PMID: 34718171
Background & Aims: The potential effectiveness of gut-directed hypnotherapy (HT) is unknown for pediatric chronic nausea. This randomized controlled trial compared HT with standard medical treatment (SMT). Methods: One hundred...
9.
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
den Hollander B, Rasing A, Post M, Klein W, Oud M, Brands M, et al.
Front Neurol . 2021 Jun; 12:668640. PMID: 34163424
NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in , encoding an essential enzyme in sialic acid synthesis. Sialic acid at the end of...
10.
The Association between Weather Conditions and Admissions to the Paediatric Intensive Care Unit for Respiratory Syncytial Virus Bronchiolitis
Linssen R, den Hollander B, Bont L, van Woensel J, Bem R, The Pice Study Group
Pathogens . 2021 Jun; 10(5). PMID: 34067031
Respiratory syncytial virus (RSV) bronchiolitis is a leading cause of global child morbidity and mortality. Every year, seasonal RSV outbreaks put high pressure on paediatric intensive care units (PICUs) worldwide,...