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Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy.

JIMD reports

van Karnebeek C, Horvath G, Murphy T, Purtzki J, Bowden K, Sirrs S, Honey CR, Stockler S.
PMID: 24718842
JIMD Rep. 2015;15:113-6. doi: 10.1007/8904_2014_305. Epub 2014 Apr 10.

Deep brain stimulation (DBS) has been used to treat secondary dystonias caused by inborn errors of metabolism with varying degrees of effectiveness. Here we report for the first time the application of DBS as treatment for secondary dystonia in...

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van Karnebeek C, Horvath G, Murphy T, et al. Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy. JIMD Rep. 2014;15:113-6doi: 10.1007/8904_2014_305.
van Karnebeek, C., Horvath, G., Murphy, T., Purtzki, J., Bowden, K., Sirrs, S., Honey, C. R., & Stockler, S. (2015). Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy. JIMD reports, 15113-6. https://doi.org/10.1007/8904_2014_305
van Karnebeek, Clara, et al. "Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy." JIMD reports vol. 15 (2015): 113-6. doi: https://doi.org/10.1007/8904_2014_305
van Karnebeek C, Horvath G, Murphy T, Purtzki J, Bowden K, Sirrs S, Honey CR, Stockler S. Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy. JIMD Rep. 2015;15:113-6. doi: 10.1007/8904_2014_305. Epub 2014 Apr 10. PMID: 24718842; PMCID: PMC4270865.
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Response to Newman et al.

Genetics in medicine : official journal of the American College of Medical Genetics

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF.
PMID: 29215644
Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.164. Epub 2017 Oct 26.

No abstract available.

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Parikh S, Goldstein A, Karaa A, et al. Response to Newman et al. Genet Med. 2017;19(12)doi: 10.1038/gim.2017.164.
Parikh, S., Goldstein, A., Karaa, A., Koenig, M. K., Anselm, I., Brunel-Guitton, C., Christodoulou, J., Cohen, B. H., Dimmock, D., Enns, G. M., Falk, M. J., Feigenbaum, A., Frye, R. E., Ganesh, J., Griesemer, D., Haas, R., Horvath, R., Korson, M., Kruer, M. C., Mancuso, M., McCormack, S., Josee Raboisson, M., Reimschisel, T., Salvarinova, R., Saneto, R. P., Scaglia, F., Shoffner, J., Stacpoole, P. W., Sue, C. M., Tarnopolsky, M., Van Karnebeek, C., Wolfe, L. A., Zolkipli Cunningham, Z., Rahman, S., & Chinnery, P. F. (2017). Response to Newman et al. Genetics in medicine : official journal of the American College of Medical Genetics, 19(12), . https://doi.org/10.1038/gim.2017.164
Parikh, Sumit, et al. "Response to Newman et al." Genetics in medicine : official journal of the American College of Medical Genetics vol. 19,12 (2017). doi: https://doi.org/10.1038/gim.2017.164
Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF. Response to Newman et al. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.164. Epub 2017 Oct 26. PMID: 29215644; PMCID: PMC7787267.
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Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.

JIMD reports

Anastasio N, Tarailo-Graovac M, Al-Khalifah R, Legault L, Drogemoller B, Ross CJ, Wasserman WW, van Karnebeek C, Buhas D.
PMID: 27074787
JIMD Rep. 2017;31:57-62. doi: 10.1007/8904_2016_557. Epub 2016 Apr 14.

Hyperglycemia is a rare presenting symptom of mitochondrial disorders. We report a case of a young girl who presented shortly after birth with ketoacidosis, hyperlactatemia, hyperammonemia, and insulin-responsive hyperglycemia. Initial metabolic work-up suggested mitochondrial dysfunction. Given our patient's unusual...

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Anastasio N, Tarailo-Graovac M, Al-Khalifah R, et al. Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes. JIMD Rep. 2016;31:57-62doi: 10.1007/8904_2016_557.
Anastasio, N., Tarailo-Graovac, M., Al-Khalifah, R., Legault, L., Drogemoller, B., Ross, C. J., Wasserman, W. W., van Karnebeek, C., & Buhas, D. (2017). Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes. JIMD reports, 3157-62. https://doi.org/10.1007/8904_2016_557
Anastasio, Natascia, et al. "Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes." JIMD reports vol. 31 (2017): 57-62. doi: https://doi.org/10.1007/8904_2016_557
Anastasio N, Tarailo-Graovac M, Al-Khalifah R, Legault L, Drogemoller B, Ross CJ, Wasserman WW, van Karnebeek C, Buhas D. Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes. JIMD Rep. 2017;31:57-62. doi: 10.1007/8904_2016_557. Epub 2016 Apr 14. PMID: 27074787; PMCID: PMC5388639.
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Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies.

Molecular genetics and metabolism

Friedman JM, van Essen P, van Karnebeek CDM.
PMID: 34872807
Mol Genet Metab. 2021 Nov 08; doi: 10.1016/j.ymgme.2021.11.001. Epub 2021 Nov 08.

Cerebral palsy (CP) is a debilitating condition characterized by abnormal movement or posture, beginning early in development. Early family and twin studies and more recent genomic investigations clearly demonstrate that genetic factors of major effect contribute to the etiology...

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Friedman JM, van Essen P, van Karnebeek CDM. Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies. Mol Genet Metab. 2021;doi: 10.1016/j.ymgme.2021.11.001.
Friedman, J. M., van Essen, P., & van Karnebeek, C. D. M. (2021). Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies. Molecular genetics and metabolism, . https://doi.org/10.1016/j.ymgme.2021.11.001
Friedman, Jan M, et al. "Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies." Molecular genetics and metabolism vol. (2021). doi: https://doi.org/10.1016/j.ymgme.2021.11.001
Friedman JM, van Essen P, van Karnebeek CDM. Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies. Mol Genet Metab. 2021 Nov 08; doi: 10.1016/j.ymgme.2021.11.001. Epub 2021 Nov 08. PMID: 34872807.
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Response to Shen et al.

Genetics in medicine : official journal of the American College of Medical Genetics

Kok G, van Karnebeek CDM, Fuchs SA.
PMID: 34906483
Genet Med. 2021 Nov 05; doi: 10.1016/j.gim.2021.09.022. Epub 2021 Nov 05.

No abstract available.

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Kok G, van Karnebeek CDM, Fuchs SA. Response to Shen et al. Genet Med. 2021;doi: 10.1016/j.gim.2021.09.022.
Kok, G., van Karnebeek, C. D. M., & Fuchs, S. A. (2021). Response to Shen et al. Genetics in medicine : official journal of the American College of Medical Genetics, . https://doi.org/10.1016/j.gim.2021.09.022
Kok, Gautam, et al. "Response to Shen et al." Genetics in medicine : official journal of the American College of Medical Genetics vol. (2021). doi: https://doi.org/10.1016/j.gim.2021.09.022
Kok G, van Karnebeek CDM, Fuchs SA. Response to Shen et al. Genet Med. 2021 Nov 05; doi: 10.1016/j.gim.2021.09.022. Epub 2021 Nov 05. PMID: 34906483.
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GLUT1 deficiency: progress in unraveling its genetic basis.

Developmental medicine and child neurology

Van Karnebeek CD.
PMID: 27468989
Dev Med Child Neurol. 2016 Dec;58(12):1210-1211. doi: 10.1111/dmcn.13220. Epub 2016 Jul 29.

No abstract available.

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Van Karnebeek CD. GLUT1 deficiency: progress in unraveling its genetic basis. Dev Med Child Neurol. 2016;58(12):1210-1211doi: 10.1111/dmcn.13220.
Van Karnebeek, C. D. (2016). GLUT1 deficiency: progress in unraveling its genetic basis. Developmental medicine and child neurology, 58(12), 1210-1211. https://doi.org/10.1111/dmcn.13220
Van Karnebeek, Clara D M. "GLUT1 deficiency: progress in unraveling its genetic basis." Developmental medicine and child neurology vol. 58,12 (2016): 1210-1211. doi: https://doi.org/10.1111/dmcn.13220
Van Karnebeek CD. GLUT1 deficiency: progress in unraveling its genetic basis. Dev Med Child Neurol. 2016 Dec;58(12):1210-1211. doi: 10.1111/dmcn.13220. Epub 2016 Jul 29. PMID: 27468989.
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Current treatment and management of pyridoxine-dependent epilepsy.

Current treatment options in neurology

van Karnebeek CD, Jaggumantri S.
PMID: 25639976
Curr Treat Options Neurol. 2015 Feb;17(2):335. doi: 10.1007/s11940-014-0335-0.

OPINION STATEMENT: Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs,...

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van Karnebeek CD, Jaggumantri S. Current treatment and management of pyridoxine-dependent epilepsy. Curr Treat Options Neurol. 2015;17(2):335doi: 10.1007/s11940-014-0335-0.
van Karnebeek, C. D., & Jaggumantri, S. (2015). Current treatment and management of pyridoxine-dependent epilepsy. Current treatment options in neurology, 17(2), 335. https://doi.org/10.1007/s11940-014-0335-0
van Karnebeek, Clara D M, and Jaggumantri, Sravan. "Current treatment and management of pyridoxine-dependent epilepsy." Current treatment options in neurology vol. 17,2 (2015): 335. doi: https://doi.org/10.1007/s11940-014-0335-0
van Karnebeek CD, Jaggumantri S. Current treatment and management of pyridoxine-dependent epilepsy. Curr Treat Options Neurol. 2015 Feb;17(2):335. doi: 10.1007/s11940-014-0335-0. PMID: 25639976.
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Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

JIMD reports

Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J.
PMID: 27450367
JIMD Rep. 2017;33:99-107. doi: 10.1007/8904_2016_559. Epub 2016 Jul 22.

Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, relentlessly progressive, devastating neurodegenerative disorder that usually presents in infancy or early childhood. A diagnosis of Leigh-like syndrome may be considered in individuals who do not fulfil the...

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Balasubramaniam S, Lewis B, Mock DM, et al. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). JIMD Rep. 2016;33:99-107doi: 10.1007/8904_2016_559.
Balasubramaniam, S., Lewis, B., Mock, D. M., Said, H. M., Tarailo-Graovac, M., Mattman, A., van Karnebeek, C. D., Thorburn, D. R., Rodenburg, R. J., & Christodoulou, J. (2017). Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). JIMD reports, 3399-107. https://doi.org/10.1007/8904_2016_559
Balasubramaniam, Shanti, et al. "Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)." JIMD reports vol. 33 (2017): 99-107. doi: https://doi.org/10.1007/8904_2016_559
Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). JIMD Rep. 2017;33:99-107. doi: 10.1007/8904_2016_559. Epub 2016 Jul 22. PMID: 27450367; PMCID: PMC5413447.
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Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1.

Neurology

Müller AR, Brands MMMG, van de Ven PM, Roes KCB, Cornel MC, van Karnebeek CDM, Wijburg FA, Daams JG, Boot E, van Eeghen AM.
PMID: 33504638
Neurology. 2021 Mar 16;96(11):529-540. doi: 10.1212/WNL.0000000000011597. Epub 2021 Jan 27.

OBJECTIVE: To improve the use of N-of-1 studies in rare genetic neurodevelopmental disorders, we systematically reviewed the literature and formulated recommendations for future studies.METHODS: The systematic review protocol was registered in the PROSPERO International Prospective Register of Systematic Reviews...

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Müller AR, Brands MMMG, van de Ven PM, et al. Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1. Neurology. 2021;96(11):529-540doi: 10.1212/WNL.0000000000011597.
Müller, A. R., Brands, M. M. M. G., van de Ven, P. M., Roes, K. C. B., Cornel, M. C., van Karnebeek, C. D. M., Wijburg, F. A., Daams, J. G., Boot, E., & van Eeghen, A. M. (2021). Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1. Neurology, 96(11), 529-540. https://doi.org/10.1212/WNL.0000000000011597
Müller, Annelieke R, et al. "Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1." Neurology vol. 96,11 (2021): 529-540. doi: https://doi.org/10.1212/WNL.0000000000011597
Müller AR, Brands MMMG, van de Ven PM, Roes KCB, Cornel MC, van Karnebeek CDM, Wijburg FA, Daams JG, Boot E, van Eeghen AM. Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1. Neurology. 2021 Mar 16;96(11):529-540. doi: 10.1212/WNL.0000000000011597. Epub 2021 Jan 27. PMID: 33504638; PMCID: PMC8032375.
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Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology

Modi BP, Del Bel KL, Lin S, Sharma M, Richmond PA, van Karnebeek CDM, Chan ES, Avinashi V, Rehmus WE, Biggs CM, Wasserman WW, Turvey SE.
PMID: 33446255
Allergy Asthma Clin Immunol. 2021 Jan 14;17(1):9. doi: 10.1186/s13223-021-00510-z.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical and genetic heterogeneity between different ectodermal dysplasia types and evidence of incomplete penetrance and variable expressivity increase the potential for misdiagnosis. We describe a family...

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Modi BP, Del Bel KL, Lin S, et al. Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy. Allergy Asthma Clin Immunol. 2021;17(1):9doi: 10.1186/s13223-021-00510-z.
Modi, B. P., Del Bel, K. L., Lin, S., Sharma, M., Richmond, P. A., van Karnebeek, C. D. M., Chan, E. S., Avinashi, V., Rehmus, W. E., Biggs, C. M., Wasserman, W. W., & Turvey, S. E. (2021). Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology, 17(1), 9. https://doi.org/10.1186/s13223-021-00510-z
Modi, Bhavi P, et al. "Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy." Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology vol. 17,1 (2021): 9. doi: https://doi.org/10.1186/s13223-021-00510-z
Modi BP, Del Bel KL, Lin S, Sharma M, Richmond PA, van Karnebeek CDM, Chan ES, Avinashi V, Rehmus WE, Biggs CM, Wasserman WW, Turvey SE. Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy. Allergy Asthma Clin Immunol. 2021 Jan 14;17(1):9. doi: 10.1186/s13223-021-00510-z. PMID: 33446255; PMCID: PMC7809757.
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Inborn disorders of the malate aspartate shuttle.

Journal of inherited metabolic disease

Broeks MH, van Karnebeek CDM, Wanders RJA, Jans JJM, Verhoeven-Duif NM.
PMID: 33990986
J Inherit Metab Dis. 2021 Jul;44(4):792-808. doi: 10.1002/jimd.12402. Epub 2021 May 24.

Over the last few years, various inborn disorders have been reported in the malate aspartate shuttle (MAS). The MAS consists of four metabolic enzymes and two transporters, one of them having two isoforms that are expressed in different tissues....

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Broeks MH, van Karnebeek CDM, Wanders RJA, et al. Inborn disorders of the malate aspartate shuttle. J Inherit Metab Dis. 2021;44(4):792-808doi: 10.1002/jimd.12402.
Broeks, M. H., van Karnebeek, C. D. M., Wanders, R. J. A., Jans, J. J. M., & Verhoeven-Duif, N. M. (2021). Inborn disorders of the malate aspartate shuttle. Journal of inherited metabolic disease, 44(4), 792-808. https://doi.org/10.1002/jimd.12402
Broeks, Melissa H, et al. "Inborn disorders of the malate aspartate shuttle." Journal of inherited metabolic disease vol. 44,4 (2021): 792-808. doi: https://doi.org/10.1002/jimd.12402
Broeks MH, van Karnebeek CDM, Wanders RJA, Jans JJM, Verhoeven-Duif NM. Inborn disorders of the malate aspartate shuttle. J Inherit Metab Dis. 2021 Jul;44(4):792-808. doi: 10.1002/jimd.12402. Epub 2021 May 24. PMID: 33990986; PMCID: PMC8362162.
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The progressive intellectual and neurological deterioration study: a game changer.

Developmental medicine and child neurology

van Karnebeek CD.
PMID: 33336358
Dev Med Child Neurol. 2021 Mar;63(3):243. doi: 10.1111/dmcn.14780. Epub 2020 Dec 17.

No abstract available.

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van Karnebeek CD. The progressive intellectual and neurological deterioration study: a game changer. Dev Med Child Neurol. 2020;63(3):243doi: 10.1111/dmcn.14780.
van Karnebeek, C. D. (2021). The progressive intellectual and neurological deterioration study: a game changer. Developmental medicine and child neurology, 63(3), 243. https://doi.org/10.1111/dmcn.14780
van Karnebeek, Clara Dm. "The progressive intellectual and neurological deterioration study: a game changer." Developmental medicine and child neurology vol. 63,3 (2021): 243. doi: https://doi.org/10.1111/dmcn.14780
van Karnebeek CD. The progressive intellectual and neurological deterioration study: a game changer. Dev Med Child Neurol. 2021 Mar;63(3):243. doi: 10.1111/dmcn.14780. Epub 2020 Dec 17. PMID: 33336358; PMCID: PMC7898509.
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Showing 1 to 12 of 47 entries