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Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.

JIMD reports

Spitz MA, Nguyen MA, Roche S, Heron B, Milh M, de Lonlay P, Lion-François L, Testard H, Napuri S, Barth M, Fournier-Favre S, Christa L, Vianey-Saban C, Corne C, Roubertie A.
PMID: 27147232
JIMD Rep. 2017;31:85-93. doi: 10.1007/8904_2016_550. Epub 2016 May 05.

Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin biosynthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms.PATIENTS AND METHODS: We present a retrospective descriptive...

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Spitz MA, Nguyen MA, Roche S, et al. Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients. JIMD Rep. 2016;31:85-93doi: 10.1007/8904_2016_550.
Spitz, M. A., Nguyen, M. A., Roche, S., Heron, B., Milh, M., de Lonlay, P., Lion-François, L., Testard, H., Napuri, S., Barth, M., Fournier-Favre, S., Christa, L., Vianey-Saban, C., Corne, C., & Roubertie, A. (2017). Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients. JIMD reports, 3185-93. https://doi.org/10.1007/8904_2016_550
Spitz, M A, et al. "Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients." JIMD reports vol. 31 (2017): 85-93. doi: https://doi.org/10.1007/8904_2016_550
Spitz MA, Nguyen MA, Roche S, Heron B, Milh M, de Lonlay P, Lion-François L, Testard H, Napuri S, Barth M, Fournier-Favre S, Christa L, Vianey-Saban C, Corne C, Roubertie A. Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients. JIMD Rep. 2017;31:85-93. doi: 10.1007/8904_2016_550. Epub 2016 May 05. PMID: 27147232; PMCID: PMC5272843.
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Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

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

Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK.
PMID: 29300369
Genet Med. 2018 Sep;20(9):1098. doi: 10.1038/gim.2017.232.

The original supplementary information included with this article contained several minor errors. Corrected Supplementary Information accompanies this corrigendum.

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Coughlin CR, Swanson MA, Kronquist K, et al. Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2018;20(9):1098doi: 10.1038/gim.2017.232.
Coughlin, C. R., Swanson, M. A., Kronquist, K., Acquaviva, C., Hutchin, T., Rodríguez-Pombo, P., Väisänen, M. L., Spector, E., Creadon-Swindell, G., Brás-Goldberg, A. M., Rahikkala, E., Moilanen, J. S., Mahieu, V., Matthijs, G., Bravo-Alonso, I., Pérez-Cerdá, C., Ugarte, M., Vianey-Saban, C., Scharer, G. H., & Van Hove, J. L. K. (2018). Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genetics in medicine : official journal of the American College of Medical Genetics, 20(9), 1098. https://doi.org/10.1038/gim.2017.232
Coughlin, Curtis R, et al. "Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT." Genetics in medicine : official journal of the American College of Medical Genetics vol. 20,9 (2018): 1098. doi: https://doi.org/10.1038/gim.2017.232
Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK. Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2018 Sep;20(9):1098. doi: 10.1038/gim.2017.232. PMID: 29300369.
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Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Molecular genetics and metabolism reports

Piraud M, Pettazzoni M, de Antonio M, Vianey-Saban C, Froissart R, Chabrol B, Young S, Laforêt P.
PMID: 32382504
Mol Genet Metab Rep. 2020 May 01;23:100583. doi: 10.1016/j.ymgmr.2020.100583. eCollection 2020 Jun.

No abstract available.

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Piraud M, Pettazzoni M, de Antonio M, et al. Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort. Mol Genet Metab Rep. 2020;23:100583doi: 10.1016/j.ymgmr.2020.100583.
Piraud, M., Pettazzoni, M., de Antonio, M., Vianey-Saban, C., Froissart, R., Chabrol, B., Young, S., Laforêt, P. (2020). Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort. Molecular genetics and metabolism reports, 23100583. https://doi.org/10.1016/j.ymgmr.2020.100583
Piraud, Monique, et al. "Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort." Molecular genetics and metabolism reports vol. 23 (2020): 100583. doi: https://doi.org/10.1016/j.ymgmr.2020.100583
Piraud M, Pettazzoni M, de Antonio M, Vianey-Saban C, Froissart R, Chabrol B, Young S, Laforêt P. Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort. Mol Genet Metab Rep. 2020 May 01;23:100583. doi: 10.1016/j.ymgmr.2020.100583. eCollection 2020 Jun. PMID: 32382504; PMCID: PMC7200937.
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Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities.

Neuromuscular disorders : NMD

Carey G, Kuchcinski G, Gauvrit F, Defebvre L, Nguyen S, Dhaenens CM, Dessein AF, Vianey-Saban C, Acquaviva C, Tard C.
PMID: 34384672
Neuromuscul Disord. 2021 Aug;31(8):752-755. doi: 10.1016/j.nmd.2021.06.009. Epub 2021 Jun 26.

Brown-Vialetto-Van Laere syndrome is a rare, autosomal, recessive neurological condition caused by variants in the riboflavin transporter genes SLC52A2 and SLC52A3. Here, we report on three cases. Case 1 was a 35-year-old woman from a consanguineous family who presented...

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Carey G, Kuchcinski G, Gauvrit F, et al. Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities. Neuromuscul Disord. 2021;31(8):752-755doi: 10.1016/j.nmd.2021.06.009.
Carey, G., Kuchcinski, G., Gauvrit, F., Defebvre, L., Nguyen, S., Dhaenens, C. M., Dessein, A. F., Vianey-Saban, C., Acquaviva, C., & Tard, C. (2021). Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities. Neuromuscular disorders : NMD, 31(8), 752-755. https://doi.org/10.1016/j.nmd.2021.06.009
Carey, Guillaume, et al. "Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities." Neuromuscular disorders : NMD vol. 31,8 (2021): 752-755. doi: https://doi.org/10.1016/j.nmd.2021.06.009
Carey G, Kuchcinski G, Gauvrit F, Defebvre L, Nguyen S, Dhaenens CM, Dessein AF, Vianey-Saban C, Acquaviva C, Tard C. Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities. Neuromuscul Disord. 2021 Aug;31(8):752-755. doi: 10.1016/j.nmd.2021.06.009. Epub 2021 Jun 26. PMID: 34384672.
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A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.

JIMD reports

Fontaine M, Dessein AF, Douillard C, Dobbelaere D, Brivet M, Boutron A, Zater M, Mention-Mulliez K, Martin-Ponthieu A, Vianey-Saban C, Briand G, Porchet N, Vamecq J.
PMID: 23430932
JIMD Rep. 2012;6:7-14. doi: 10.1007/8904_2011_94. Epub 2012 Jan 31.

The present work presents a "from gene defect to clinics" pathogenesis study of a patient with a hitherto unreported mutation in the CPT1A gene. In early childhood, the patient developed a life-threatening episode (hypoketotic hypoglycemia, liver cytolysis, and hepatomegaly)...

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Fontaine M, Dessein AF, Douillard C, et al. A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency. JIMD Rep. 2012;6:7-14doi: 10.1007/8904_2011_94.
Fontaine, M., Dessein, A. F., Douillard, C., Dobbelaere, D., Brivet, M., Boutron, A., Zater, M., Mention-Mulliez, K., Martin-Ponthieu, A., Vianey-Saban, C., Briand, G., Porchet, N., & Vamecq, J. (2012). A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency. JIMD reports, 67-14. https://doi.org/10.1007/8904_2011_94
Fontaine, Monique, et al. "A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency." JIMD reports vol. 6 (2012): 7-14. doi: https://doi.org/10.1007/8904_2011_94
Fontaine M, Dessein AF, Douillard C, Dobbelaere D, Brivet M, Boutron A, Zater M, Mention-Mulliez K, Martin-Ponthieu A, Vianey-Saban C, Briand G, Porchet N, Vamecq J. A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency. JIMD Rep. 2012;6:7-14. doi: 10.1007/8904_2011_94. Epub 2012 Jan 31. PMID: 23430932; PMCID: PMC3565650.
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Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Molecular genetics and metabolism reports

Faoucher M, Poulat AL, Chatron N, Labalme A, Schluth-Bolard C, Till M, Vianey-Saban C, Portes VD, Edery P, Sanlaville D, Lesca G, Acquaviva C.
PMID: 31720226
Mol Genet Metab Rep. 2019 Nov 01;21:100509. doi: 10.1016/j.ymgmr.2019.100509. eCollection 2019 Dec.

We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the

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Faoucher M, Poulat AL, Chatron N, et al. Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism. Mol Genet Metab Rep. 2019;21:100509doi: 10.1016/j.ymgmr.2019.100509.
Faoucher, M., Poulat, A. L., Chatron, N., Labalme, A., Schluth-Bolard, C., Till, M., Vianey-Saban, C., Portes, V. D., Edery, P., Sanlaville, D., Lesca, G., & Acquaviva, C. (2019). Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism. Molecular genetics and metabolism reports, 21100509. https://doi.org/10.1016/j.ymgmr.2019.100509
Faoucher, Marie, et al. "Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism." Molecular genetics and metabolism reports vol. 21 (2019): 100509. doi: https://doi.org/10.1016/j.ymgmr.2019.100509
Faoucher M, Poulat AL, Chatron N, Labalme A, Schluth-Bolard C, Till M, Vianey-Saban C, Portes VD, Edery P, Sanlaville D, Lesca G, Acquaviva C. Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism. Mol Genet Metab Rep. 2019 Nov 01;21:100509. doi: 10.1016/j.ymgmr.2019.100509. eCollection 2019 Dec. PMID: 31720226; PMCID: PMC6838931.
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Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

JIMD reports

Pontoizeau C, Habarou F, Brassier A, Veauville-Merllié A, Grisel C, Arnoux JB, Vianey-Saban C, Barouki R, Chadefaux-Vekemans B, Acquaviva C, de Lonlay P, Ottolenghi C.
PMID: 26409463
JIMD Rep. 2016;27:39-45. doi: 10.1007/8904_2015_481. Epub 2015 Sep 27.

Classical neonatal-onset glutaric aciduria type 2 (MAD deficiency) is a severe disorder of mitochondrial fatty acid oxidation associated with poor survival. Secondary dysfunction of acyl-CoA dehydrogenases may result from deficiency for riboflavin transporters, leading to severe disorders that, nevertheless,...

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Pontoizeau C, Habarou F, Brassier A, et al. Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. JIMD Rep. 2015;27:39-45doi: 10.1007/8904_2015_481.
Pontoizeau, C., Habarou, F., Brassier, A., Veauville-Merllié, A., Grisel, C., Arnoux, J. B., Vianey-Saban, C., Barouki, R., Chadefaux-Vekemans, B., Acquaviva, C., de Lonlay, P., & Ottolenghi, C. (2016). Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. JIMD reports, 2739-45. https://doi.org/10.1007/8904_2015_481
Pontoizeau, Clément, et al. "Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles." JIMD reports vol. 27 (2016): 39-45. doi: https://doi.org/10.1007/8904_2015_481
Pontoizeau C, Habarou F, Brassier A, Veauville-Merllié A, Grisel C, Arnoux JB, Vianey-Saban C, Barouki R, Chadefaux-Vekemans B, Acquaviva C, de Lonlay P, Ottolenghi C. Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. JIMD Rep. 2016;27:39-45. doi: 10.1007/8904_2015_481. Epub 2015 Sep 27. PMID: 26409463; PMCID: PMC4864717.
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Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

JIMD reports

Sala PR, Ruijter G, Acquaviva C, Chabli A, de Sain-van der Velden MG, Garcia-Villoria J, Heiner-Fokkema MR, Jeannesson-Thivisol E, Leckstrom K, Franzson L, Lynes G, Olesen J, Onkenhout W, Petrou P, Drousiotou A, Ribes A, Vianey-Saban C, Merinero B.
PMID: 26898293
JIMD Rep. 2016;30:23-31. doi: 10.1007/8904_2016_533. Epub 2016 Feb 23.

The analysis of acylcarnitines (AC) in plasma/serum is established as a useful test for the biochemical diagnosis and the monitoring of treatment of organic acidurias and fatty acid oxidation defects. External quality assurance (EQA) for qualitative and quantitative AC...

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Sala PR, Ruijter G, Acquaviva C, et al. Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum. JIMD Rep. 2016;30:23-31doi: 10.1007/8904_2016_533.
Sala, P. R., Ruijter, G., Acquaviva, C., Chabli, A., de Sain-van der Velden, M. G., Garcia-Villoria, J., Heiner-Fokkema, M. R., Jeannesson-Thivisol, E., Leckstrom, K., Franzson, L., Lynes, G., Olesen, J., Onkenhout, W., Petrou, P., Drousiotou, A., Ribes, A., Vianey-Saban, C., & Merinero, B. (2016). Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum. JIMD reports, 3023-31. https://doi.org/10.1007/8904_2016_533
Sala, P Ruiz, et al. "Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum." JIMD reports vol. 30 (2016): 23-31. doi: https://doi.org/10.1007/8904_2016_533
Sala PR, Ruijter G, Acquaviva C, Chabli A, de Sain-van der Velden MG, Garcia-Villoria J, Heiner-Fokkema MR, Jeannesson-Thivisol E, Leckstrom K, Franzson L, Lynes G, Olesen J, Onkenhout W, Petrou P, Drousiotou A, Ribes A, Vianey-Saban C, Merinero B. Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum. JIMD Rep. 2016;30:23-31. doi: 10.1007/8904_2016_533. Epub 2016 Feb 23. PMID: 26898293; PMCID: PMC5110441.
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Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs.

Pediatric nephrology (Berlin, Germany)

Gaillard S, Roche L, Lemoine S, Deschênes G, Morin D, Vianey-Saban C, Acquaviva-Bourdain C, Ranchin B, Bacchetta J, Kassai B, Nony P, Bodénan E, Laudy V, Rouges C, Zarrabian S, Subtil F, Mercier C, Cochat P, Bertholet-Thomas A.
PMID: 32901297
Pediatr Nephrol. 2021 Mar;36(3):581-589. doi: 10.1007/s00467-020-04722-0. Epub 2020 Sep 09.

INTRODUCTION: In nephropathic cystinosis (NC), adherence to cysteamine remains challenging; poor adherence is worsening the disease progression with a decline of kidney function and increase of extrarenal morbidities. Our objective was to describe adherence to cysteamine in NC patients,...

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Gaillard S, Roche L, Lemoine S, et al. Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs. Pediatr Nephrol. 2020;36(3):581-589doi: 10.1007/s00467-020-04722-0.
Gaillard, S., Roche, L., Lemoine, S., Deschênes, G., Morin, D., Vianey-Saban, C., Acquaviva-Bourdain, C., Ranchin, B., Bacchetta, J., Kassai, B., Nony, P., Bodénan, E., Laudy, V., Rouges, C., Zarrabian, S., Subtil, F., Mercier, C., Cochat, P., & Bertholet-Thomas, A. (2021). Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs. Pediatric nephrology (Berlin, Germany), 36(3), 581-589. https://doi.org/10.1007/s00467-020-04722-0
Gaillard, Segolene, et al. "Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs." Pediatric nephrology (Berlin, Germany) vol. 36,3 (2021): 581-589. doi: https://doi.org/10.1007/s00467-020-04722-0
Gaillard S, Roche L, Lemoine S, Deschênes G, Morin D, Vianey-Saban C, Acquaviva-Bourdain C, Ranchin B, Bacchetta J, Kassai B, Nony P, Bodénan E, Laudy V, Rouges C, Zarrabian S, Subtil F, Mercier C, Cochat P, Bertholet-Thomas A. Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs. Pediatr Nephrol. 2021 Mar;36(3):581-589. doi: 10.1007/s00467-020-04722-0. Epub 2020 Sep 09. PMID: 32901297.
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Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.

JIMD reports

Bouvier D, Vianey-Saban C, Ruet S, Acquaviva C.
PMID: 27943070
JIMD Rep. 2017;35:71-78. doi: 10.1007/8904_2016_22. Epub 2016 Dec 10.

Mitochondrial fatty acid oxidation is a vital biochemical process for energy metabolism. Among the known fatty-acid metabolism disorders, very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency count among the most frequent. Both are potentially very serious...

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Bouvier D, Vianey-Saban C, Ruet S, et al. Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts. JIMD Rep. 2016;35:71-78doi: 10.1007/8904_2016_22.
Bouvier, D., Vianey-Saban, C., Ruet, S., & Acquaviva, C. (2017). Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts. JIMD reports, 3571-78. https://doi.org/10.1007/8904_2016_22
Bouvier, Damien, et al. "Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts." JIMD reports vol. 35 (2017): 71-78. doi: https://doi.org/10.1007/8904_2016_22
Bouvier D, Vianey-Saban C, Ruet S, Acquaviva C. Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts. JIMD Rep. 2017;35:71-78. doi: 10.1007/8904_2016_22. Epub 2016 Dec 10. PMID: 27943070; PMCID: PMC5585096.
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Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke.

Movement disorders clinical practice

Demailly D, Vianey-Saban C, Acquaviva C, Gonzalez V, Rubio IA, Cyprien F, Roujeau T, Masoliver A, Leboucq N, Coubes P, Cif L.
PMID: 30838298
Mov Disord Clin Pract. 2018 Jul 19;5(4):436-438. doi: 10.1002/mdc3.12633. eCollection 2018.

No abstract available.

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Demailly D, Vianey-Saban C, Acquaviva C, et al. Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke. Mov Disord Clin Pract. 2018;5(4):436-438doi: 10.1002/mdc3.12633.
Demailly, D., Vianey-Saban, C., Acquaviva, C., Gonzalez, V., Rubio, I. A., Cyprien, F., Roujeau, T., Masoliver, A., Leboucq, N., Coubes, P., & Cif, L. (2018). Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke. Movement disorders clinical practice, 5(4), 436-438. https://doi.org/10.1002/mdc3.12633
Demailly, Diane, et al. "Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke." Movement disorders clinical practice vol. 5,4 (2018): 436-438. doi: https://doi.org/10.1002/mdc3.12633
Demailly D, Vianey-Saban C, Acquaviva C, Gonzalez V, Rubio IA, Cyprien F, Roujeau T, Masoliver A, Leboucq N, Coubes P, Cif L. Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke. Mov Disord Clin Pract. 2018 Jul 19;5(4):436-438. doi: 10.1002/mdc3.12633. eCollection 2018. PMID: 30838298; PMCID: PMC6336155.
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