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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1.
J Inherit Metab Dis. 2021.
PMID: 33200442
An update on serine deficiency disorders.
van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ.
van der Crabben SN, et al.
J Inherit Metab Dis. 2013 Jul;36(4):613-9. doi: 10.1007/s10545-013-9592-4. Epub 2013 Mar 6.
J Inherit Metab Dis. 2013.
PMID: 23463425
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The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
Mathis D, Abela L, Albersen M, Bürer C, Crowther L, Beese K, Hartmann H, Bok LA, Struys E, Papuc SM, Rauch A, Hersberger M, Verhoeven-Duif NM, Plecko B.
Mathis D, et al.
J Inherit Metab Dis. 2016 Sep;39(5):733-741. doi: 10.1007/s10545-016-9955-8. Epub 2016 Jun 24.
J Inherit Metab Dis. 2016.
PMID: 27342130
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Vitamin B6 is essential for serine de novo biosynthesis.
Ramos RJ, Pras-Raves ML, Gerrits J, van der Ham M, Willemsen M, Prinsen H, Burgering B, Jans JJ, Verhoeven-Duif NM.
Ramos RJ, et al.
J Inherit Metab Dis. 2017 Nov;40(6):883-891. doi: 10.1007/s10545-017-0061-3. Epub 2017 Aug 11.
J Inherit Metab Dis. 2017.
PMID: 28801717
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Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
Pena IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A.
Pena IA, et al.
Genetics. 2017 Dec;207(4):1501-1518. doi: 10.1534/genetics.117.300137. Epub 2017 Oct 23.
Genetics. 2017.
PMID: 29061647
Free PMC article.
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PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium; Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.
Johnstone DL, et al.
Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.
Brain. 2019.
PMID: 30668673
Free PMC article.
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Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies.
Haijes HA, van Hasselt PM, Jans JJM, Verhoeven-Duif NM.
Haijes HA, et al.
J Inherit Metab Dis. 2019 Sep;42(5):745-761. doi: 10.1002/jimd.12128. Epub 2019 Jul 9.
J Inherit Metab Dis. 2019.
PMID: 31119742
Review.
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Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications.
Haijes HA, Jans JJM, Tas SY, Verhoeven-Duif NM, van Hasselt PM.
Haijes HA, et al.
J Inherit Metab Dis. 2019 Sep;42(5):730-744. doi: 10.1002/jimd.12129. Epub 2019 Aug 7.
J Inherit Metab Dis. 2019.
PMID: 31119747
Review.
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Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM.
Haijes HA, et al.
Mol Genet Metab. 2019 Aug;127(4):368-372. doi: 10.1016/j.ymgme.2019.07.001. Epub 2019 Jul 9.
Mol Genet Metab. 2019.
PMID: 31311714
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Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA.
van Karnebeek CDM, et al.
Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15.
Am J Hum Genet. 2019.
PMID: 31422819
Free PMC article.
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