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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium; Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J. Huemer M, et al. J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17. J Inherit Metab Dis. 2019. PMID: 30773687
AIM: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. ...The wide vari …
AIM: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders f …
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.
Ku CA, Ng JK, Karr DJ, Reznick L, Harding CO, Weleber RG, Pennesi ME. Ku CA, et al. Ophthalmic Genet. 2016 Dec;37(4):404-414. doi: 10.3109/13816810.2015.1121500. Epub 2016 Mar 15. Ophthalmic Genet. 2016. PMID: 26979128
MATERIALS AND METHODS: A case series describing the ophthalmologic clinical course of six patients with a diagnosis of cobalamin C type and one patient with cobalamin A type of methylmalonic acidemia. ...
MATERIALS AND METHODS: A case series describing the ophthalmologic clinical course of six patients with a diagnosis of cobalamin C ty …
Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.
Roze E, Gervais D, Demeret S, Ogier de Baulny H, Zittoun J, Benoist JF, Said G, Pierrot-Deseilligny C, Bolgert F. Roze E, et al. Arch Neurol. 2003 Oct;60(10):1457-62. doi: 10.1001/archneur.60.10.1457. Arch Neurol. 2003. PMID: 14568819 Clinical Trial.
A 16-year-old girl was initially seen with psychosis and severe progressive neuropathy requiring mechanical ventilatory support and her 24-year-old sister had a 2-year disease course of subacute combined degeneration of the spinal cord. A metabolic workup displayed increas …
A 16-year-old girl was initially seen with psychosis and severe progressive neuropathy requiring mechanical ventilatory support and her 24-y …
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
Thauvin-Robinet C, Roze E, Couvreur G, Horellou MH, Sedel F, Grabli D, Bruneteau G, Tonneti C, Masurel-Paulet A, Perennou D, Moreau T, Giroud M, de Baulny HO, Giraudier S, Faivre L. Thauvin-Robinet C, et al. J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):725-8. doi: 10.1136/jnnp.2007.133025. Epub 2008 Feb 1. J Neurol Neurosurg Psychiatry. 2008. PMID: 18245139
Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis.
Ma X, Zhang Y, Yang Y, Liu X, Yang Z, Bao X, Qin J, Wu X. Ma X, et al. Brain Dev. 2011 Oct;33(9):790-5. doi: 10.1016/j.braindev.2011.06.001. Epub 2011 Jul 20. Brain Dev. 2011. PMID: 21764232
OBJECTIVE: To summarize the electroclinical features and prognosis of epilepsy in children with methylmalonic acidemia (MMA). ...Urine organic acid analysis should be performed for children with unknown cause of epilepsy combined with other neurological manifestations, so …
OBJECTIVE: To summarize the electroclinical features and prognosis of epilepsy in children with methylmalonic acidemia (MMA). ...Urin …