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Year | Number of Results |
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1999 | 1 |
2000 | 2 |
2017 | 1 |
2020 | 1 |
2024 | 0 |
PubMed for id: 381478
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Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.
BMC Med Genet. 2020 Jul 29;21(1):155. doi: 10.1186/s12881-020-01080-4.
BMC Med Genet. 2020.
PMID: 32727382
Free PMC article.
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert SC, Schmitt RN, Schlatter SM, Gemperle-Britschgi C, Balcı MC, Berg V, Çoker M, Das AM, Demirkol M, Derks TGJ, Gökçay G, Uçar SK, Konstantopoulou V, Christoph Korenke G, Lotz-Havla AS, Schlune A, Staufner C, Tran C, Visser G, Schwab KO, Fukao T, Sass JO.
Grünert SC, et al.
Mol Genet Metab. 2017 Sep;122(1-2):67-75. doi: 10.1016/j.ymgme.2017.06.012. Epub 2017 Jun 27.
Mol Genet Metab. 2017.
PMID: 28689740
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Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.
Chloupková M, Ravn K, Schwartz M, Kraus JP.
Chloupková M, et al.
Mol Genet Metab. 2000 Dec;71(4):623-32. doi: 10.1006/mgme.2000.3097.
Mol Genet Metab. 2000.
PMID: 11136555
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Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.
Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, Holme E, Kudoh J, Shimizu N, Narisawa K.
Sakamoto O, et al.
Eur J Pediatr. 2000 Jan-Feb;159(1-2):18-22. doi: 10.1007/s004310050004.
Eur J Pediatr. 2000.
PMID: 10653324
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Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.
Aoki Y, Li X, Sakamoto O, Hiratsuka M, Akaishi H, Xu L, Briones P, Suormala T, Baumgartner ER, Suzuki Y, Narisawa K.
Aoki Y, et al.
Hum Genet. 1999 Feb;104(2):143-8. doi: 10.1007/s004390050927.
Hum Genet. 1999.
PMID: 10190325
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