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Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease.

Child and adolescent psychiatry and mental health

Wouters S, De Meirleir L, Campforts E, Lampo A.
PMID: 25071864
Child Adolesc Psychiatry Ment Health. 2014 Jul 11;8:20. doi: 10.1186/1753-2000-8-20. eCollection 2014.

Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene. It is a progressive and highly heterogeneous disease, characterized by the presentation of visceral,...

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Wouters S, De Meirleir L, Campforts E, et al. Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease. Child Adolesc Psychiatry Ment Health. 2014;8:20doi: 10.1186/1753-2000-8-20.
Wouters, S., De Meirleir, L., Campforts, E., & Lampo, A. (2014). Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease. Child and adolescent psychiatry and mental health, 820. https://doi.org/10.1186/1753-2000-8-20
Wouters, Sara, et al. "Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease." Child and adolescent psychiatry and mental health vol. 8 (2014): 20. doi: https://doi.org/10.1186/1753-2000-8-20
Wouters S, De Meirleir L, Campforts E, Lampo A. Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease. Child Adolesc Psychiatry Ment Health. 2014 Jul 11;8:20. doi: 10.1186/1753-2000-8-20. eCollection 2014. PMID: 25071864; PMCID: PMC4112998.
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Forum.

The Physician and sportsmedicine

De Meirleir K.
PMID: 29268043
Phys Sportsmed. 1994 Sep;22(9):14. doi: 10.1080/00913847.1994.11947686.

No abstract available.

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De Meirleir K. Forum. Phys Sportsmed. 1994;22(9):14doi: 10.1080/00913847.1994.11947686.
De Meirleir, K. (1994). Forum. The Physician and sportsmedicine, 22(9), 14. https://doi.org/10.1080/00913847.1994.11947686
De Meirleir, Kenny. "Forum." The Physician and sportsmedicine vol. 22,9 (1994): 14. doi: https://doi.org/10.1080/00913847.1994.11947686
De Meirleir K. Forum. Phys Sportsmed. 1994 Sep;22(9):14. doi: 10.1080/00913847.1994.11947686. PMID: 29268043.
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Gut-Associated Plasmacytoid Dendritic Cells Display an Immature Phenotype and Upregulated Granzyme B in Subjects with HIV/AIDS.

Frontiers in immunology

Boichuk SV, Khaiboullina SF, Ramazanov BR, Khasanova GR, Ivanovskaya KA, Nizamutdinov EZ, Sharafutdinov MR, Martynova EV, DeMeirleir KL, Hulstaert J, Anokhin VA, Rizvanov AA, Lombardi VC.
PMID: 26441989
Front Immunol. 2015 Sep 24;6:485. doi: 10.3389/fimmu.2015.00485. eCollection 2015.

Plasmacytoid dendritic cells (pDCs) in the periphery of subjects with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) decrease over time, and the fate of these cells has been the subject of ongoing investigation. Previous studies using animal models as...

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Boichuk SV, Khaiboullina SF, Ramazanov BR, et al. Gut-Associated Plasmacytoid Dendritic Cells Display an Immature Phenotype and Upregulated Granzyme B in Subjects with HIV/AIDS. Front Immunol. 2015;6:485doi: 10.3389/fimmu.2015.00485.
Boichuk, S. V., Khaiboullina, S. F., Ramazanov, B. R., Khasanova, G. R., Ivanovskaya, K. A., Nizamutdinov, E. Z., Sharafutdinov, M. R., Martynova, E. V., DeMeirleir, K. L., Hulstaert, J., Anokhin, V. A., Rizvanov, A. A., & Lombardi, V. C. (2015). Gut-Associated Plasmacytoid Dendritic Cells Display an Immature Phenotype and Upregulated Granzyme B in Subjects with HIV/AIDS. Frontiers in immunology, 6485. https://doi.org/10.3389/fimmu.2015.00485
Boichuk, Sergei V, et al. "Gut-Associated Plasmacytoid Dendritic Cells Display an Immature Phenotype and Upregulated Granzyme B in Subjects with HIV/AIDS." Frontiers in immunology vol. 6 (2015): 485. doi: https://doi.org/10.3389/fimmu.2015.00485
Boichuk SV, Khaiboullina SF, Ramazanov BR, Khasanova GR, Ivanovskaya KA, Nizamutdinov EZ, Sharafutdinov MR, Martynova EV, DeMeirleir KL, Hulstaert J, Anokhin VA, Rizvanov AA, Lombardi VC. Gut-Associated Plasmacytoid Dendritic Cells Display an Immature Phenotype and Upregulated Granzyme B in Subjects with HIV/AIDS. Front Immunol. 2015 Sep 24;6:485. doi: 10.3389/fimmu.2015.00485. eCollection 2015. PMID: 26441989; PMCID: PMC4585323.
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Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency.

Analytica chimica acta

Gerlo E, Van Coster R, Lissens W, Winckelmans G, De Meirleir L, Wevers R.
PMID: 17723438
Anal Chim Acta. 2006 Jul 07;571(2):191-9. doi: 10.1016/j.aca.2006.04.079. Epub 2006 May 05.

During the metabolic work-up of a patient presenting with neonatal convulsions, we consistently observed the presence of unusual peaks in the gas chromatographic-mass spectrometric analysis of urinary organic acids. The gas chromatographic-mass spectrometric characteristics of the unusual peaks suggested...

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Gerlo E, Van Coster R, Lissens W, et al. Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency. Anal Chim Acta. 2006;571(2):191-9doi: 10.1016/j.aca.2006.04.079.
Gerlo, E., Van Coster, R., Lissens, W., Winckelmans, G., De Meirleir, L., & Wevers, R. (2006). Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency. Analytica chimica acta, 571(2), 191-9. https://doi.org/10.1016/j.aca.2006.04.079
Gerlo, Erik, et al. "Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency." Analytica chimica acta vol. 571,2 (2006): 191-9. doi: https://doi.org/10.1016/j.aca.2006.04.079
Gerlo E, Van Coster R, Lissens W, Winckelmans G, De Meirleir L, Wevers R. Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency. Anal Chim Acta. 2006 Jul 07;571(2):191-9. doi: 10.1016/j.aca.2006.04.079. Epub 2006 May 05. PMID: 17723438.
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Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation.

JIMD reports

Singhi P, De Meirleir L, Lissens W, Singhi S, Saini AG.
PMID: 23430811
JIMD Rep. 2013;10:107-11. doi: 10.1007/8904_2012_211. Epub 2013 Feb 12.

The nucleus-encoded mitochondrial pyruvate dehydrogenase enzyme complex plays key roles in cellular energy metabolism and acid-base equilibrium. Pyruvate dehydrogenase complex deficiency is due to loss-of-function mutation in one of the five component enzymes, most commonly E1α-subunit. The common clinical...

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Singhi P, De Meirleir L, Lissens W, et al. Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation. JIMD Rep. 2013;10:107-11doi: 10.1007/8904_2012_211.
Singhi, P., De Meirleir, L., Lissens, W., Singhi, S., & Saini, A. G. (2013). Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation. JIMD reports, 10107-11. https://doi.org/10.1007/8904_2012_211
Singhi, Pratibha, et al. "Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation." JIMD reports vol. 10 (2013): 107-11. doi: https://doi.org/10.1007/8904_2012_211
Singhi P, De Meirleir L, Lissens W, Singhi S, Saini AG. Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation. JIMD Rep. 2013;10:107-11. doi: 10.1007/8904_2012_211. Epub 2013 Feb 12. PMID: 23430811; PMCID: PMC3755565.
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Journal of inherited metabolic disease

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG.
PMID: 26077421
J Inherit Metab Dis. 2015 Nov;38(6):1157-8. doi: 10.1007/s10545-015-9868-y.

No abstract available.

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Kölker S, Valayannopoulos V, Burlina AB, et al. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 2015;38(6):1157-8doi: 10.1007/s10545-015-9868-y.
Kölker, S., Valayannopoulos, V., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Arnoux, J. B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Boy, S. P., Rasmussen, M. B., Burgard, P., Chabrol, B., Chakrapani, A., Chapman, K., Cortès I Saladelafont, E., Couce, M. L., de Meirleir, L., Dobbelaere, D., Furlan, F., Gleich, F., González, M. J., Gradowska, W., Grünewald, S., Honzik, T., Hörster, F., Ioannou, H., Jalan, A., Häberle, J., Haege, G., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., Murphy, E., de Baulny, H. O., Ortez, C., Pedrón, C. C., Pintos-Morell, G., Pena-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M., Lund, A. M., & Cazorla, A. G. (2015). Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. Journal of inherited metabolic disease, 38(6), 1157-8. https://doi.org/10.1007/s10545-015-9868-y
Kölker, Stefan, et al. "Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype." Journal of inherited metabolic disease vol. 38,6 (2015): 1157-8. doi: https://doi.org/10.1007/s10545-015-9868-y
Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 2015 Nov;38(6):1157-8. doi: 10.1007/s10545-015-9868-y. PMID: 26077421.
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ALG11-CDG: Three novel mutations and further characterization of the phenotype.

Molecular genetics and metabolism reports

Regal L, van Hasselt PM, Foulquier F, Cuppen I, Prinsen H, Jansen K, Keldermans L, De Meirleir L, Matthijs G, Jaeken J.
PMID: 28649519
Mol Genet Metab Rep. 2014 Nov 25;2:16-19. doi: 10.1016/j.ymgmr.2014.11.006. eCollection 2015 Mar.

We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in one of them, neuronal heterotopia, and early lethality....

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Regal L, van Hasselt PM, Foulquier F, et al. ALG11-CDG: Three novel mutations and further characterization of the phenotype. Mol Genet Metab Rep. 2014;2:16-19doi: 10.1016/j.ymgmr.2014.11.006.
Regal, L., van Hasselt, P. M., Foulquier, F., Cuppen, I., Prinsen, H., Jansen, K., Keldermans, L., De Meirleir, L., Matthijs, G., & Jaeken, J. (2015). ALG11-CDG: Three novel mutations and further characterization of the phenotype. Molecular genetics and metabolism reports, 216-19. https://doi.org/10.1016/j.ymgmr.2014.11.006
Regal, L, et al. "ALG11-CDG: Three novel mutations and further characterization of the phenotype." Molecular genetics and metabolism reports vol. 2 (2015): 16-19. doi: https://doi.org/10.1016/j.ymgmr.2014.11.006
Regal L, van Hasselt PM, Foulquier F, Cuppen I, Prinsen H, Jansen K, Keldermans L, De Meirleir L, Matthijs G, Jaeken J. ALG11-CDG: Three novel mutations and further characterization of the phenotype. Mol Genet Metab Rep. 2014 Nov 25;2:16-19. doi: 10.1016/j.ymgmr.2014.11.006. eCollection 2015 Mar. PMID: 28649519; PMCID: PMC5471160.
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Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage.

Maternal health, neonatology and perinatology

Staels W, D'Haese J, Sercu E, De Meirleir L, Colpaert J, Cornette L.
PMID: 27057325
Matern Health Neonatol Perinatol. 2015 Mar 18;1:8. doi: 10.1186/s40748-015-0010-9. eCollection 2015.

BACKGROUND: Medium-chain Acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited disorder of fatty acid beta-oxidation. Signs and symptoms of MCADD typically appear during infancy or early childhood and include vomiting, lethargy, and hypoglycemia. Pulmonary haemorrhage has previously been...

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Staels W, D'Haese J, Sercu E, et al. Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage. Matern Health Neonatol Perinatol. 2015;1:8doi: 10.1186/s40748-015-0010-9.
Staels, W., D'Haese, J., Sercu, E., De Meirleir, L., Colpaert, J., & Cornette, L. (2015). Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage. Maternal health, neonatology and perinatology, 18. https://doi.org/10.1186/s40748-015-0010-9
Staels, Willem, et al. "Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage." Maternal health, neonatology and perinatology vol. 1 (2015): 8. doi: https://doi.org/10.1186/s40748-015-0010-9
Staels W, D'Haese J, Sercu E, De Meirleir L, Colpaert J, Cornette L. Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage. Matern Health Neonatol Perinatol. 2015 Mar 18;1:8. doi: 10.1186/s40748-015-0010-9. eCollection 2015. PMID: 27057325; PMCID: PMC4823675.
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Effect of ankle-foot orthoses on gait in typically developing children: Developmental trend in segmental coordination.

Journal of pediatric rehabilitation medicine

Degelaen M, Leurs F, De Borre L, Kerckhofs E, De Meirleir L, Cheron G, Dan B.
PMID: 21791847
J Pediatr Rehabil Med. 2010;3(3):163-70. doi: 10.3233/PRM-2010-0125.

OBJECTIVE: As orthoses, and particularly ankle-foot orthoses, are widely used in the management of children with motor disorders, including cerebral palsy, we aimed to study their effect in normal children in order to add to normative gait data, which...

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Degelaen M, Leurs F, De Borre L, et al. Effect of ankle-foot orthoses on gait in typically developing children: Developmental trend in segmental coordination. J Pediatr Rehabil Med. 2010;3(3):163-70doi: 10.3233/PRM-2010-0125.
Degelaen, M., Leurs, F., De Borre, L., Kerckhofs, E., De Meirleir, L., Cheron, G., & Dan, B. (2010). Effect of ankle-foot orthoses on gait in typically developing children: Developmental trend in segmental coordination. Journal of pediatric rehabilitation medicine, 3(3), 163-70. https://doi.org/10.3233/PRM-2010-0125
Degelaen, Marc, et al. "Effect of ankle-foot orthoses on gait in typically developing children: Developmental trend in segmental coordination." Journal of pediatric rehabilitation medicine vol. 3,3 (2010): 163-70. doi: https://doi.org/10.3233/PRM-2010-0125
Degelaen M, Leurs F, De Borre L, Kerckhofs E, De Meirleir L, Cheron G, Dan B. Effect of ankle-foot orthoses on gait in typically developing children: Developmental trend in segmental coordination. J Pediatr Rehabil Med. 2010;3(3):163-70. doi: 10.3233/PRM-2010-0125. PMID: 21791847.
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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

JIMD reports

Scalais E, Osterheld E, Geron C, Pierron C, Chafai R, Schlesser V, Borde P, Regal L, Laeremans H, van Gassen KLI, van den Heuvel LB, De Meirleir L.
PMID: 31497484
JIMD Rep. 2019 Jul 01;49(1):70-79. doi: 10.1002/jmd2.12055. eCollection 2019 Sep.

Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or X-linked disorders. Parenteral hydroxocobalamin (P-OHCbl) is the mainstay of therapy, but the optimal dose has not been determined. Despite early treatment, long-term complications may develop. We have...

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Scalais E, Osterheld E, Geron C, et al. Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses. JIMD Rep. 2019;49(1):70-79doi: 10.1002/jmd2.12055.
Scalais, E., Osterheld, E., Geron, C., Pierron, C., Chafai, R., Schlesser, V., Borde, P., Regal, L., Laeremans, H., van Gassen, K. L. I., van den Heuvel, L. B., & De Meirleir, L. (2019). Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses. JIMD reports, 49(1), 70-79. https://doi.org/10.1002/jmd2.12055
Scalais, Emmanuel, et al. "Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses." JIMD reports vol. 49,1 (2019): 70-79. doi: https://doi.org/10.1002/jmd2.12055
Scalais E, Osterheld E, Geron C, Pierron C, Chafai R, Schlesser V, Borde P, Regal L, Laeremans H, van Gassen KLI, van den Heuvel LB, De Meirleir L. Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses. JIMD Rep. 2019 Jul 01;49(1):70-79. doi: 10.1002/jmd2.12055. eCollection 2019 Sep. PMID: 31497484; PMCID: PMC6718108.
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Journal of inherited metabolic disease

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.
PMID: 26077420
J Inherit Metab Dis. 2015 Nov;38(6):1155-6. doi: 10.1007/s10545-015-9867-z.

No abstract available.

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Kölker S, Cazorla AG, Valayannopoulos V, et al. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015;38(6):1155-6doi: 10.1007/s10545-015-9867-z.
Kölker, S., Cazorla, A. G., Valayannopoulos, V., Lund, A. M., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Augoustides-Savvopoulou, P., Aksglaede, L., Arnoux, J. B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Chabrol, B., Chakrapani, A., Chapman, K., I Saladelafont, E. C., Couce, M. L., de Meirleir, L., Dobbelaere, D., Dvorakova, V., Furlan, F., Gleich, F., Gradowska, W., Grünewald, S., Jalan, A., Häberle, J., Haege, G., Lachmann, R., Laemmle, A., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., de Baulny, H. O., Ortez, C., Peña-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Staufner, C., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M., & Burgard, P. (2015). Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Journal of inherited metabolic disease, 38(6), 1155-6. https://doi.org/10.1007/s10545-015-9867-z
Kölker, Stefan, et al. "Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation." Journal of inherited metabolic disease vol. 38,6 (2015): 1155-6. doi: https://doi.org/10.1007/s10545-015-9867-z
Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015 Nov;38(6):1155-6. doi: 10.1007/s10545-015-9867-z. PMID: 26077420.
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