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Search life-sciences literature (45,100,050 articles, preprints and more)

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Novel hepatocyte-like liver organoids recapitulate crucial mature hepatic functions
Ardisasmita AI, Joore IP, Levy N, Myszczyszyn A, Marsee A, Sinnige T, Ruiter J, Ferdinandusse S, Dudaryeva O, Gruber E, Daive V, Levato R, Spee B, Verstegen M, van der Laan L, Nieuwenhuis EES, Schene IF, Fuchs SA
bioRxiv, 29 Oct 2024
Cited by: 0 articles | PPR: PPR932234
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Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.
Al-Amrani F, Ruiter JPN, Doolaard M, Kumar A, Ferdinandusse S, Al-Thihli K
Am J Med Genet A, e63900, 03 Oct 2024
Cited by: 0 articles | PMID: 39360520
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Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.
Balfoort BM, Pampalone G, Ruiter JPN, Denis SW, Brands MM, GACR Bird's Eye View Consortium, Timmer C, Wagenmakers MAEM, Wanders RJA, van Karnebeek CD, Cellini B, Houtkooper RH, Ferdinandusse S
Mol Genet Metab, 143(1-2):108542, 19 Jul 2024
Cited by: 0 articles | PMID: 39053126
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Disorders of fatty acid homeostasis.
Vaz FM, Ferdinandusse S, Salomons GS, Wanders RJA
J Inherit Metab Dis, 01 May 2024
Cited by: 1 article | PMID: 38693715
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Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Schwantje M, Mosegaard S, Knottnerus SJG, van Klinken JB, Wanders RJ, van Lenthe H, Hermans J, IJlst L, Denis SW, Jaspers YRJ, Fuchs SA, Houtkooper RH, Ferdinandusse S, Vaz FM
FASEB J, 38(4):e23478, 01 Feb 2024
Cited by: 0 articles | PMID: 38372965
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Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Vaz FM, Staps P, van Klinken JB, van Lenthe H, Vervaart M, Wanders RJA, Pras-Raves ML, van Weeghel M, Salomons GS, Ferdinandusse S, Wevers RA, Willemsen MAAP
Biochim Biophys Acta Mol Cell Biol Lipids, 1869(2):159447, 03 Jan 2024
Cited by: 2 articles | PMID: 38181883
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Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review.
Monda E, Bakalakos A, Syrris P, Mohiddin S, Ferdinandusse S, Murphy E, Elliott PM
Eur J Med Genet, 66(12):104885, 17 Nov 2023
Cited by: 0 articles | PMID: 37979716
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Vision on gyrate atrophy: why treat the eye?
Bergen AA, Buijs MJ, Ten Asbroek AL, Balfoort BM, Boon CJ, Dutch GACR “Bird’s Eye View” Consortium, Brands MM, Wanders RJ, van Karnebeek CD, Houtkooper RH
EMBO Mol Med, 16(1):4-7, 14 Dec 2023
Cited by: 2 articles | PMID: 38177529 | PMCID: PMC10883273
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Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M
J Med Genet, 60(12):1177-1185, 27 Nov 2023
Cited by: 3 articles | PMID: 37487700 | PMCID: PMC10715524
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Tracer-based lipidomics identifies novel disease-specific biomarkers in mitochondrial β-oxidation disorders
Schwantje M, Mosegaard S, Knottnerus SJ, van Klinken JB, Wanders RJ, van Lenthe H, Hermans J, IJlst L, Denis SW, Jaspers YR, Fuchs SA, Houtkooper RH, Ferdinandusse S, Vaz FM
bioRxiv, 31 Aug 2023
Cited by: 0 articles | PPR: PPR717880
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Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Alabdulrazzaq F, Alanzi T, Al-Balool HH, Gardham A, Wakeling E, Leitch HG, AlSayed M, Abdulrahim M, Aladwani A, Romito A, Kampe K, Ferdinandusse S, Aboelanine AH, Abdullah A, Alwadani A, Bastaki L, Vaz FM, Bertoli-Avella AM, Marafi D
Mol Genet Genomic Med, 11(12):e2256, 18 Aug 2023
Cited by: 3 articles | PMID: 37592902 | PMCID: PMC10724518
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Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Waterham HR, Koster J, Ebberink MS, Ješina P, Zeman J, Nosková L, Kmoch S, Devic P, Cheillan D, Wanders RJA, Ferdinandusse S
Genet Med, 25(11):100944, 23 Jul 2023
Cited by: 1 article | PMID: 37493040
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Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.
Berner J, van de Wetering C, Jimenez Heredia R, Rashkova C, Ferdinandusse S, Koster J, Weiss JG, Frohne A, Giuliani S, Waterham HR, Castanon I, Brunner J, Boztug K
J Allergy Clin Immunol, 152(4):1025-1031.e2, 25 Jun 2023
Cited by: 1 article | PMID: 37364720 | PMCID: PMC10549927
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Sex-specific newborn screening for X-linked adrenoleukodystrophy.
Albersen M, van der Beek SL, Dijkstra IME, Alders M, Barendsen RW, Bliek J, Boelen A, Ebberink MS, Ferdinandusse S, Goorden SMI, Heijboer AC, Jansen M, Jaspers YRJ, Metgod I, Salomons GS, Vaz FM, Verschoof-Puite RK, Visser WF, Dekkers E, [...] Kemp S
J Inherit Metab Dis, 46(1):116-128, 26 Oct 2022
Cited by: 10 articles | PMID: 36256460 | PMCID: PMC10092852
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International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, [...] Huffnagel IC
Neurology, 99(21):940-951, 29 Sep 2022
Cited by: 22 articles | PMID: 36175155 | PMCID: PMC9687408
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Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Lee RG, Balasubramaniam S, Stentenbach M, Kralj T, McCubbin T, Padman B, Smith J, Riley LG, Priyadarshi A, Peng L, Nuske MR, Webster R, Peacock K, Roberts P, Stark Z, Lemire G, Ito YA, Care4Rare Canada Consortium, Boycott KM, [...] Filipovska A
Hum Mol Genet, 31(21):3597-3612, 01 Oct 2022
Cited by: 13 articles | PMID: 35147173
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Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Hermans ME, van Weeghel M, Vaz FM, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, van Kuilenburg ABP, Pras-Raves ML, Wamelink MMC, Wanders RJA, Welsink-Karssies MM, Bosch AM
J Inherit Metab Dis, 45(6):1094-1105, 25 Aug 2022
Cited by: 5 articles | PMID: 36053831
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The physiological functions of human peroxisomes.
Wanders RJA, Baes M, Ribeiro D, Ferdinandusse S, Waterham HR
Physiol Rev, 103(1):957-1024, 11 Aug 2022
Cited by: 41 articles | PMID: 35951481
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Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report.
Stolwijk NN, Langeveld M, Jacobs BAW, Vogt L, Haverkamp JA, Ferdinandusse S, Hollak CEM
JIMD Rep, 63(5):407-413, 25 Jun 2022
Cited by: 1 article | PMID: 36101817 | PMCID: PMC9458612
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Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
Veenvliet ARJ, Garrelfs MR, Udink Ten Cate FEA, Ferdinandusse S, Denis S, Fuchs SA, Schwantje M, Geurtzen R, van Wegberg AMJ, Huigen MCDG, Kluijtmans LAJ, Wanders RJA, Derks TGJ, de Boer L, Houtkooper RH, de Vries MC, van Karnebeek CDM
Mol Genet Metab Rep, 31:100873, 04 May 2022
Cited by: 0 articles | PMID: 35782614 | PMCID: PMC9248206
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Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Schwantje M, Ebberink MS, Doolaard M, Ruiter JPN, Fuchs SA, Darin N, Hedberg-Oldfors C, Régal L, Donker Kaat L, Huidekoper HH, Olpin S, Cole D, Moat SJ, Visser G, Ferdinandusse S
J Inherit Metab Dis, 45(4):819-831, 05 May 2022
Cited by: 1 article | PMID: 35403730 | PMCID: PMC9542805
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Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M, Fuchs SA, de Boer L, Bosch AM, Cuppen I, Dekkers E, Derks TGJ, Ferdinandusse S, Ijlst L, Houtkooper RH, Maase R, van der Pol WL, de Vries MC, Verschoof-Puite RK, Wanders RJA, Williams M, Wijburg F, Visser G
J Inherit Metab Dis, 45(4):804-818, 19 Apr 2022
Cited by: 6 articles | PMID: 35383965 | PMCID: PMC9546250
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Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
Crefcoeur LL, Visser G, Ferdinandusse S, Wijburg FA, Langeveld M, Sjouke B
J Inherit Metab Dis, 45(3):386-405, 03 Feb 2022
Cited by: 13 articles | PMID: 34997761 | PMCID: PMC9305179
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3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
Sasarman F, Ferdinandusse S, Sinasac DS, Fung E, Sparkes R, Reeves M, Rombough C, Sass JO, Voit R, Ruiter JPN, Koster J, Waterham HR, Pasquini E, Donati MA, Marquardt T, Wanders RJA, Al-Hertani W
J Inherit Metab Dis, 45(3):445-455, 07 Mar 2022
Cited by: 1 article | PMID: 35174513
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Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
van de Stadt SIW, Mooyer PAW, Dijkstra IME, Dekker CJM, Vats D, Vera M, Ruzhnikov MRZ, van Haren K, Tang N, Koop K, Willemsen MA, Hui J, Vaz FM, Ebberink MS, Engelen M, Kemp S, Ferdinandusse S
Genes (Basel), 12(12):1930, 30 Nov 2021
Cited by: 5 articles | PMID: 34946879 | PMCID: PMC8701351
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1-25 of 187 results

1 2 3 Next ...

Search life-sciences literature (45,100,050 articles, preprints and more)

Search results

Novel hepatocyte-like liver organoids recapitulate crucial mature hepatic functions

Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.

Disorders of fatty acid homeostasis.

Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.

Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.

Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review.

Vision on gyrate atrophy: why treat the eye?

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.

Tracer-based lipidomics identifies novel disease-specific biomarkers in mitochondrial β-oxidation disorders

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.

Sex-specific newborn screening for X-linked adrenoleukodystrophy.

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.

The physiological functions of human peroxisomes.

Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report.

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.

Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.

3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

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