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Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia.

Journal of inherited metabolic disease

Neuberger JM, Schweitzer S, Rolland MO, Burghard R.
PMID: 10682305
J Inherit Metab Dis. 2000 Feb;23(1):22-6. doi: 10.1023/a:1005642728513.

A 6-month-old girl presented with hypotonia and mild psychomotor retardation. Subsequently, an atypical manifestation of a nonketotic hyperglycinaemia was diagnosed, confirmed by significantly reduced activity of the glycine cleavage system in the liver tissue. After the patient developed hypsarrhythmia...

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Neuberger JM, Schweitzer S, Rolland MO, et al. Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia. J Inherit Metab Dis. 2000;23(1):22-6doi: 10.1023/a:1005642728513.
Neuberger, J. M., Schweitzer, S., Rolland, M. O., & Burghard, R. (2000). Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia. Journal of inherited metabolic disease, 23(1), 22-6. https://doi.org/10.1023/a:1005642728513
Neuberger, J M, et al. "Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia." Journal of inherited metabolic disease vol. 23,1 (2000): 22-6. doi: https://doi.org/10.1023/a:1005642728513
Neuberger JM, Schweitzer S, Rolland MO, Burghard R. Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia. J Inherit Metab Dis. 2000 Feb;23(1):22-6. doi: 10.1023/a:1005642728513. PMID: 10682305.
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Recent advances in cystic fibrosis.

Journal of inherited metabolic disease

McPherson MA.
PMID: 3141691
J Inherit Metab Dis. 1988;11:94-109. doi: 10.1007/BF01800575.

Cystic fibrosis, one of the most common lethal inherited disorders in N. European and N. American populations, is characterized by the production of abnormally viscous mucous secretions in the lungs and digestive tract. The pathophysiological basis of the disease...

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McPherson MA. Recent advances in cystic fibrosis. J Inherit Metab Dis. 1988;11:94-109doi: 10.1007/BF01800575.
McPherson, M. A. (1988). Recent advances in cystic fibrosis. Journal of inherited metabolic disease, 1194-109. https://doi.org/10.1007/BF01800575
McPherson, M A. "Recent advances in cystic fibrosis." Journal of inherited metabolic disease vol. 11 (1988): 94-109. doi: https://doi.org/10.1007/BF01800575
McPherson MA. Recent advances in cystic fibrosis. J Inherit Metab Dis. 1988;11:94-109. doi: 10.1007/BF01800575. PMID: 3141691.
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Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Journal of inherited metabolic disease

Posset R, Garcia-Cazorla A, Valayannopoulos V, Leão Teles E, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S.
PMID: 29330779
J Inherit Metab Dis. 2018 Jul;41(4):743-744. doi: 10.1007/s10545-017-0117-4.

Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly.

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Posset R, Garcia-Cazorla A, Valayannopoulos V, et al. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. J Inherit Metab Dis. 2018;41(4):743-744doi: 10.1007/s10545-017-0117-4.
Posset, R., Garcia-Cazorla, A., Valayannopoulos, V., Leão Teles, E., Dionisi-Vici, C., Brassier, A., Burlina, A. B., Burgard, P., Cortès-Saladelafont, E., Dobbelaere, D., Couce, M. L., Sykut-Cegielska, J., Häberle, J., Lund, A. M., Chakrapani, A., Schiff, M., Walter, J. H., Zeman, J., Vara, R., Kölker, S. (2018). Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Journal of inherited metabolic disease, 41(4), 743-744. https://doi.org/10.1007/s10545-017-0117-4
Posset, Roland, et al. "Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders." Journal of inherited metabolic disease vol. 41,4 (2018): 743-744. doi: https://doi.org/10.1007/s10545-017-0117-4
Posset R, Garcia-Cazorla A, Valayannopoulos V, Leão Teles E, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. J Inherit Metab Dis. 2018 Jul;41(4):743-744. doi: 10.1007/s10545-017-0117-4. PMID: 29330779.
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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Journal of inherited metabolic disease

[No authors listed]
PMID: 31021452
J Inherit Metab Dis. 2019 May;42(3):577. doi: 10.1002/jimd.12082.

No abstract available.

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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. J Inherit Metab Dis. 2019;42(3):577doi: 10.1002/jimd.12082.
(2019). International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. Journal of inherited metabolic disease, 42(3), 577. https://doi.org/10.1002/jimd.12082
"International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up." Journal of inherited metabolic disease vol. 42,3 (2019): 577. doi: https://doi.org/10.1002/jimd.12082
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. J Inherit Metab Dis. 2019 May;42(3):577. doi: 10.1002/jimd.12082. PMID: 31021452.
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Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.

Journal of inherited metabolic disease

Scaini G, Tonon T, Moura de Souza CF, Schuck PF, Ferreira GC, Quevedo J, Neto JS, Amorim T, Camelo JS, Margutti AVB, Hencke Tresbach R, Sperb-Ludwig F, Boy R, de Medeiros PFV, Schwartz IVD, Streck EL.
PMID: 29740775
J Inherit Metab Dis. 2018 May 08; doi: 10.1007/s10545-018-0188-x. Epub 2018 May 08.

Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects branched-chain amino acid (BCAA) catabolism and is associated with acute and chronic brain dysfunction. Recent studies have shown that inflammation may be involved in the neuropathology...

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Scaini G, Tonon T, Moura de Souza CF, et al. Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease. J Inherit Metab Dis. 2018;doi: 10.1007/s10545-018-0188-x.
Scaini, G., Tonon, T., Moura de Souza, C. F., Schuck, P. F., Ferreira, G. C., Quevedo, J., Neto, J. S., Amorim, T., Camelo, J. S., Margutti, A. V. B., Hencke Tresbach, R., Sperb-Ludwig, F., Boy, R., de Medeiros, P. F. V., Schwartz, I. V. D., & Streck, E. L. (2018). Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease. Journal of inherited metabolic disease, . https://doi.org/10.1007/s10545-018-0188-x
Scaini, Giselli, et al. "Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease." Journal of inherited metabolic disease vol. (2018). doi: https://doi.org/10.1007/s10545-018-0188-x
Scaini G, Tonon T, Moura de Souza CF, Schuck PF, Ferreira GC, Quevedo J, Neto JS, Amorim T, Camelo JS, Margutti AVB, Hencke Tresbach R, Sperb-Ludwig F, Boy R, de Medeiros PFV, Schwartz IVD, Streck EL. Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease. J Inherit Metab Dis. 2018 May 08; doi: 10.1007/s10545-018-0188-x. Epub 2018 May 08. PMID: 29740775.
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Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set.

Journal of inherited metabolic disease

Bösch F, Landolt MA, Baumgartner MR, Zeltner N, Kölker S, Gleich F, Burlina A, Cazzorla C, Packman W, V D Schwartz I, Vieira Neto E, Ribeiro MG, Martinelli D, Olivieri G, Huemer M.
PMID: 32785952
J Inherit Metab Dis. 2021 Jan;44(1):215-225. doi: 10.1002/jimd.12301. Epub 2020 Sep 22.

Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria have a major impact on paediatric patients' life. Patients have to adhere to a strict diet but may face neurocognitive impairment...

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Bösch F, Landolt MA, Baumgartner MR, et al. Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. J Inherit Metab Dis. 2020;44(1):215-225doi: 10.1002/jimd.12301.
Bösch, F., Landolt, M. A., Baumgartner, M. R., Zeltner, N., Kölker, S., Gleich, F., Burlina, A., Cazzorla, C., Packman, W., V D Schwartz, I., Vieira Neto, E., Ribeiro, M. G., Martinelli, D., Olivieri, G., & Huemer, M. (2021). Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. Journal of inherited metabolic disease, 44(1), 215-225. https://doi.org/10.1002/jimd.12301
Bösch, Florin, et al. "Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set." Journal of inherited metabolic disease vol. 44,1 (2021): 215-225. doi: https://doi.org/10.1002/jimd.12301
Bösch F, Landolt MA, Baumgartner MR, Zeltner N, Kölker S, Gleich F, Burlina A, Cazzorla C, Packman W, V D Schwartz I, Vieira Neto E, Ribeiro MG, Martinelli D, Olivieri G, Huemer M. Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. J Inherit Metab Dis. 2021 Jan;44(1):215-225. doi: 10.1002/jimd.12301. Epub 2020 Sep 22. PMID: 32785952.
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Obituary.

Journal of inherited metabolic disease

Cameron J, Tein I.
PMID: 34904244
J Inherit Metab Dis. 2021 Dec 13; doi: 10.1002/jimd.12455. Epub 2021 Dec 13.

No abstract available.

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Cameron J, Tein I. Obituary. J Inherit Metab Dis. 2021;doi: 10.1002/jimd.12455.
Cameron, J., & Tein, I. (2021). Obituary. Journal of inherited metabolic disease, . https://doi.org/10.1002/jimd.12455
Cameron, Jessie, and Tein, Ingrid. "Obituary." Journal of inherited metabolic disease vol. (2021). doi: https://doi.org/10.1002/jimd.12455
Cameron J, Tein I. Obituary. J Inherit Metab Dis. 2021 Dec 13; doi: 10.1002/jimd.12455. Epub 2021 Dec 13. PMID: 34904244.
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Clinical presentation and natural history of Barth Syndrome: An overview.

Journal of inherited metabolic disease

Taylor C, Rao ES, Pierre G, Chronopoulou E, Hornby B, Heyman A, Vernon HJ.
PMID: 34355402
J Inherit Metab Dis. 2022 Jan;45(1):7-16. doi: 10.1002/jimd.12422. Epub 2021 Aug 15.

Barth Syndrome is a rare X-linked disorder caused by pathogenic variants in the gene TAFAZZIN, which encodes for an enzyme involved in the remodeling of cardiolipin, a phospholipid primarily localized to the inner mitochondrial membrane. Barth Syndrome is characterized...

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Taylor C, Rao ES, Pierre G, et al. Clinical presentation and natural history of Barth Syndrome: An overview. J Inherit Metab Dis. 2021;45(1):7-16doi: 10.1002/jimd.12422.
Taylor, C., Rao, E. S., Pierre, G., Chronopoulou, E., Hornby, B., Heyman, A., & Vernon, H. J. (2022). Clinical presentation and natural history of Barth Syndrome: An overview. Journal of inherited metabolic disease, 45(1), 7-16. https://doi.org/10.1002/jimd.12422
Taylor, Carolyn, et al. "Clinical presentation and natural history of Barth Syndrome: An overview." Journal of inherited metabolic disease vol. 45,1 (2022): 7-16. doi: https://doi.org/10.1002/jimd.12422
Taylor C, Rao ES, Pierre G, Chronopoulou E, Hornby B, Heyman A, Vernon HJ. Clinical presentation and natural history of Barth Syndrome: An overview. J Inherit Metab Dis. 2022 Jan;45(1):7-16. doi: 10.1002/jimd.12422. Epub 2021 Aug 15. PMID: 34355402.
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A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.

Journal of inherited metabolic disease

Rossi A, Hoogeveen IJ, Lubout CMA, de Boer F, Fokkert-Wilts MJ, Rodenburg IL, van Dam E, Grünert SC, Martinelli D, Scarpa M, Dekker H, Te Boekhorst ST, van Spronsen FJ, Derks TGJ.
PMID: 33844307
J Inherit Metab Dis. 2021 Sep;44(5):1124-1135. doi: 10.1002/jimd.12386. Epub 2021 May 04.

Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long-term data on outcomes using emergency letters are lacking. This is a retrospective, observational, single-center study of the use of emergency letters based on a...

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Rossi A, Hoogeveen IJ, Lubout CMA, et al. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net. J Inherit Metab Dis. 2021;44(5):1124-1135doi: 10.1002/jimd.12386.
Rossi, A., Hoogeveen, I. J., Lubout, C. M. A., de Boer, F., Fokkert-Wilts, M. J., Rodenburg, I. L., van Dam, E., Grünert, S. C., Martinelli, D., Scarpa, M., Dekker, H., Te Boekhorst, S. T., van Spronsen, F. J., & Derks, T. G. J. (2021). A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net. Journal of inherited metabolic disease, 44(5), 1124-1135. https://doi.org/10.1002/jimd.12386
Rossi, Alessandro, et al. "A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net." Journal of inherited metabolic disease vol. 44,5 (2021): 1124-1135. doi: https://doi.org/10.1002/jimd.12386
Rossi A, Hoogeveen IJ, Lubout CMA, de Boer F, Fokkert-Wilts MJ, Rodenburg IL, van Dam E, Grünert SC, Martinelli D, Scarpa M, Dekker H, Te Boekhorst ST, van Spronsen FJ, Derks TGJ. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net. J Inherit Metab Dis. 2021 Sep;44(5):1124-1135. doi: 10.1002/jimd.12386. Epub 2021 May 04. PMID: 33844307; PMCID: PMC8518720.
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Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: a cross-sectional analysis of 55 patients.

Journal of inherited metabolic disease

Katharina V, Wolfgang MF, Timotheus L, Christian K, Nadine H, Christine K, Heike H, Günther S, Erik H, Katharina H.
PMID: 34888877
J Inherit Metab Dis. 2021 Dec 08; doi: 10.1002/jimd.12464. Epub 2021 Dec 08.

Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disease caused by biallelic mutations in the cystinosin gene, leading to cystine accumulation in various organs. The aim of this cross-sectional study was to investigate neuromuscular complications in a cohort...

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Katharina V, Wolfgang MF, Timotheus L, et al. Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: a cross-sectional analysis of 55 patients. J Inherit Metab Dis. 2021;doi: 10.1002/jimd.12464.
Katharina, V., Wolfgang, M. F., Timotheus, L., Christian, K., Nadine, H., Christine, K., Heike, H., Günther, S., Erik, H., Katharina, H. (2021). Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: a cross-sectional analysis of 55 patients. Journal of inherited metabolic disease, . https://doi.org/10.1002/jimd.12464
Katharina, Vill, et al. "Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: a cross-sectional analysis of 55 patients." Journal of inherited metabolic disease vol. (2021). doi: https://doi.org/10.1002/jimd.12464
Katharina V, Wolfgang MF, Timotheus L, Christian K, Nadine H, Christine K, Heike H, Günther S, Erik H, Katharina H. Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: a cross-sectional analysis of 55 patients. J Inherit Metab Dis. 2021 Dec 08; doi: 10.1002/jimd.12464. Epub 2021 Dec 08. PMID: 34888877.
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ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.

Journal of inherited metabolic disease

Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK.
PMID: 33734437
J Inherit Metab Dis. 2021 Jul;44(4):1001-1012. doi: 10.1002/jimd.12378. Epub 2021 Mar 26.

Pathogenic variants in ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) cause an X-linked congenital disorder of glycosylation (ALG13-CDG) where individuals have variable clinical phenotypes that include developmental delay, intellectual disability, infantile spasms, and epileptic encephalopathy. Girls with a recurrent de novo c.3013C>T;...

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Alsharhan H, He M, Edmondson AC, et al. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. J Inherit Metab Dis. 2021;44(4):1001-1012doi: 10.1002/jimd.12378.
Alsharhan, H., He, M., Edmondson, A. C., Daniel, E. J. P., Chen, J., Donald, T., Bakhtiari, S., Amor, D. J., Jones, E. A., Vassallo, G., Vincent, M., Cogné, B., Deb, W., Werners, A. H., Jin, S. C., Bilguvar, K., Christodoulou, J., Webster, R. I., Yearwood, K. R., Ng, B. G., Freeze, H. H., Kruer, M. C., Li, D., Raymond, K. M., Bhoj, E. J., & Sobering, A. K. (2021). ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. Journal of inherited metabolic disease, 44(4), 1001-1012. https://doi.org/10.1002/jimd.12378
Alsharhan, Hind, et al. "ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes." Journal of inherited metabolic disease vol. 44,4 (2021): 1001-1012. doi: https://doi.org/10.1002/jimd.12378
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. J Inherit Metab Dis. 2021 Jul;44(4):1001-1012. doi: 10.1002/jimd.12378. Epub 2021 Mar 26. PMID: 33734437; PMCID: PMC8720508.
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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Journal of inherited metabolic disease

Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR.
PMID: 33595124
J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 09.

Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first time. The article...

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Forny P, Hörster F, Ballhausen D, et al. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J Inherit Metab Dis. 2021;44(3):566-592doi: 10.1002/jimd.12370.
Forny, P., Hörster, F., Ballhausen, D., Chakrapani, A., Chapman, K. A., Dionisi-Vici, C., Dixon, M., Grünert, S. C., Grunewald, S., Haliloglu, G., Hochuli, M., Honzik, T., Karall, D., Martinelli, D., Molema, F., Sass, J. O., Scholl-Bürgi, S., Tal, G., Williams, M., Huemer, M., & Baumgartner, M. R. (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Journal of inherited metabolic disease, 44(3), 566-592. https://doi.org/10.1002/jimd.12370
Forny, Patrick, et al. "Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision." Journal of inherited metabolic disease vol. 44,3 (2021): 566-592. doi: https://doi.org/10.1002/jimd.12370
Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 09. PMID: 33595124; PMCID: PMC8252715.
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