(en) Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici et Goknur Haliloglu, « Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia », Orphanet Journal of Rare Diseases, vol. 9, no 1, (ISSN1750-1172, PMID25205257, PMCIDPMC4180313, DOI10.1186/s13023-014-0130-8, lire en ligne)
cureus.com
(en) Rui Diogo, Inês B Rua, Sara Ferreira et Célia Nogueira, « Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features », Cureus, (ISSN2168-8184, PMID38034150, PMCIDPMC10687495, DOI10.7759/cureus.48017, lire en ligne)
(en) Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici et Goknur Haliloglu, « Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia », Orphanet Journal of Rare Diseases, vol. 9, no 1, (ISSN1750-1172, PMID25205257, PMCIDPMC4180313, DOI10.1186/s13023-014-0130-8, lire en ligne)
(en) Rui Diogo, Inês B Rua, Sara Ferreira et Célia Nogueira, « Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features », Cureus, (ISSN2168-8184, PMID38034150, PMCIDPMC10687495, DOI10.7759/cureus.48017, lire en ligne)
(en) M. Sol Collado, Allison J. Armstrong, Matthew Olson et Stephen A. Hoang, « Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes », Molecular Genetics and Metabolism, vol. 130, no 3, , p. 183–196 (PMID32451238, PMCIDPMC7337260, DOI10.1016/j.ymgme.2020.05.003, lire en ligne)
(en) B.A McLaughlin, D Nelson, I.A Silver et M Erecinska, « Methylmalonate toxicity in primary neuronal cultures », Neuroscience, vol. 86, no 1, , p. 279–290 (DOI10.1016/S0306-4522(97)00594-0, lire en ligne, consulté le )
(en) R.A. Giannella, S.A. Broitman et N. Zamcheck, « Competition Between Bacteria and Intrinsic Factor for Vitamin B12: Implications for Vitamin B12 Malabsorption in Intestinal Bacterial Overgrowth », Gastroenterology, vol. 62, no 2, , p. 255–260 (DOI10.1016/S0016-5085(72)80177-X, lire en ligne)
(en) Timothy A Sentongo, Ruba Azzam et Joel Charrow, « Vitamin B 12 Status, Methylmalonic Acidemia, and Bacterial Overgrowth in Short Bowel Syndrome », Journal of Pediatric Gastroenterology and Nutrition, vol. 48, no 4, , p. 495–497 (ISSN0277-2116 et 1536-4801, DOI10.1097/MPG.0b013e31817f9e5b, lire en ligne)
(en) Lissette Jimenez, Danielle A. Stamm, Brittany Depaula et Christopher P. Duggan, « Is Serum Methylmalonic Acid a Reliable Biomarker of Vitamin B12 Status in Children with Short Bowel Syndrome: A Case Series », The Journal of Pediatrics, vol. 192, , p. 259–261 (PMID29129351, PMCIDPMC6029886, DOI10.1016/j.jpeds.2017.09.024, lire en ligne)
(en) M. Sol Collado, Allison J. Armstrong, Matthew Olson et Stephen A. Hoang, « Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes », Molecular Genetics and Metabolism, vol. 130, no 3, , p. 183–196 (PMID32451238, PMCIDPMC7337260, DOI10.1016/j.ymgme.2020.05.003, lire en ligne)
(en) B.A McLaughlin, D Nelson, I.A Silver et M Erecinska, « Methylmalonate toxicity in primary neuronal cultures », Neuroscience, vol. 86, no 1, , p. 279–290 (DOI10.1016/S0306-4522(97)00594-0, lire en ligne, consulté le )
(en) R.A. Giannella, S.A. Broitman et N. Zamcheck, « Competition Between Bacteria and Intrinsic Factor for Vitamin B12: Implications for Vitamin B12 Malabsorption in Intestinal Bacterial Overgrowth », Gastroenterology, vol. 62, no 2, , p. 255–260 (DOI10.1016/S0016-5085(72)80177-X, lire en ligne)
(en) Lissette Jimenez, Danielle A. Stamm, Brittany Depaula et Christopher P. Duggan, « Is Serum Methylmalonic Acid a Reliable Biomarker of Vitamin B12 Status in Children with Short Bowel Syndrome: A Case Series », The Journal of Pediatrics, vol. 192, , p. 259–261 (PMID29129351, PMCIDPMC6029886, DOI10.1016/j.jpeds.2017.09.024, lire en ligne)
issn.org
portal.issn.org
(en) Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici et Goknur Haliloglu, « Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia », Orphanet Journal of Rare Diseases, vol. 9, no 1, (ISSN1750-1172, PMID25205257, PMCIDPMC4180313, DOI10.1186/s13023-014-0130-8, lire en ligne)
(en) Rui Diogo, Inês B Rua, Sara Ferreira et Célia Nogueira, « Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features », Cureus, (ISSN2168-8184, PMID38034150, PMCIDPMC10687495, DOI10.7759/cureus.48017, lire en ligne)
Andrew C. Dukowicz, Brian E. Lacy et Gary M. Levine, « Small Intestinal Bacterial Overgrowth », Gastroenterology & Hepatology, vol. 3, no 2, , p. 112–122 (ISSN1554-7914, PMID21960820, PMCID3099351, lire en ligne)
(en) Timothy A Sentongo, Ruba Azzam et Joel Charrow, « Vitamin B 12 Status, Methylmalonic Acidemia, and Bacterial Overgrowth in Short Bowel Syndrome », Journal of Pediatric Gastroenterology and Nutrition, vol. 48, no 4, , p. 495–497 (ISSN0277-2116 et 1536-4801, DOI10.1097/MPG.0b013e31817f9e5b, lire en ligne)
(en) Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici et Goknur Haliloglu, « Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia », Orphanet Journal of Rare Diseases, vol. 9, no 1, (ISSN1750-1172, PMID25205257, PMCIDPMC4180313, DOI10.1186/s13023-014-0130-8, lire en ligne)
(en) Rui Diogo, Inês B Rua, Sara Ferreira et Célia Nogueira, « Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features », Cureus, (ISSN2168-8184, PMID38034150, PMCIDPMC10687495, DOI10.7759/cureus.48017, lire en ligne)
(en) M. Sol Collado, Allison J. Armstrong, Matthew Olson et Stephen A. Hoang, « Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes », Molecular Genetics and Metabolism, vol. 130, no 3, , p. 183–196 (PMID32451238, PMCIDPMC7337260, DOI10.1016/j.ymgme.2020.05.003, lire en ligne)
Andrew C. Dukowicz, Brian E. Lacy et Gary M. Levine, « Small Intestinal Bacterial Overgrowth », Gastroenterology & Hepatology, vol. 3, no 2, , p. 112–122 (ISSN1554-7914, PMID21960820, PMCID3099351, lire en ligne)
(en) Lissette Jimenez, Danielle A. Stamm, Brittany Depaula et Christopher P. Duggan, « Is Serum Methylmalonic Acid a Reliable Biomarker of Vitamin B12 Status in Children with Short Bowel Syndrome: A Case Series », The Journal of Pediatrics, vol. 192, , p. 259–261 (PMID29129351, PMCIDPMC6029886, DOI10.1016/j.jpeds.2017.09.024, lire en ligne)
(en) Timothy A Sentongo, Ruba Azzam et Joel Charrow, « Vitamin B 12 Status, Methylmalonic Acidemia, and Bacterial Overgrowth in Short Bowel Syndrome », Journal of Pediatric Gastroenterology and Nutrition, vol. 48, no 4, , p. 495–497 (ISSN0277-2116 et 1536-4801, DOI10.1097/MPG.0b013e31817f9e5b, lire en ligne)