Results 201 to 210 of about 1,000,509 (259)

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Journal of Inherited Metabolic Disease, 2019
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.
M. Huemer, D. Diodato, D. Martinelli, G. Olivieri, H. Blom, F. Gleich, S. Kölker, V. Kožich, A. Morris, B. Seifert, D. Froese, M. Baumgartner, C. Dionisi-Vici, Carlos Alcalde Martin, M. Baethmann, D. Ballhausen, J. Blasco-Alonso, N. Boy, M. Bueno, R. Burgos Peláez, R. Cerone, B. Chabrol, K. Chapman, M. Couce, E. Crushell, J. Dalmau Serra, L. Diogo, C. Ficicioglu, M. C. García Jiménez, M. T. García Silva, A. Gaspar, M. Gautschi, D. González-Lamuño, S. Gouveia, S. Grünewald, C. Hendriksz, M. Janssen, P. Ješina, J. Koch, V. Konstantopoulou, C. Lavigne, A. Lund, E. Martins, Silvia María Meavilla Olivas, K. Mention, F. Mochel, H. Mundy, E. Murphy, S. Paquay, C. Pedrón-Giner, M. Ruiz Gómez, S. Santra, M. Schiff, I. Schwartz, S. Scholl-Bürgi, A. Servais, A. Skouma, C. Tran, I. Vives Piñera, J. Walter, J. Weisfeld-Adams   +60 more
semanticscholar   +1 more source

How to diagnose cobalamin deficiency

Scandinavian Journal of Clinical and Laboratory Investigation, 1994
Cobalamin deficiency must be suspected in all patients with unexplained neuropsychiatric symptoms or unexplained anemia. Special attention should be paid to patients at risk of developing cobalamin deficiency such as elderly people, vegetarians, HIV-infected patients, patients with gastrointestinal diseases and patients with autoimmunity or a family ...
E, Nexø, M, Hansen, K, Rasmussen, A, Lindgren, R, Gräsbeck   +4 more
openaire   +2 more sources

Leukoencephalopathy associated with cobalamin deficiency

Neurology, 1996
Patients with cobalamin deficiency may experience cognitive impairment or neuropsychiatric symptoms. Although abnormalities of central myelin are the presumed cause of these manifestations, there is a paucity of reports of white matter lesions as shown on neuroimaging studies, and the effects of cobalamin replacement on these lesions are not known.
A, Chatterjee, R, Yapundich, C A, Palmer, D C, Marson, G W, Mitchell   +4 more
openaire   +2 more sources

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell‐free DNA in maternal plasma

Prenatal Diagnosis, 2019
This study aimed to validate the feasibility of haplotype‐based noninvasive prenatal diagnosis (NIPD) of cobalamin C (cblC) deficiency.
L. Han, Chao Chen, Fengyu Guo, Jun Ye, Zhiyu Peng, W. Qiu, Yaoshen Wang, Wei Li, Huiwen Zhang, L. Liang, Yu Wang, Huanhuan Wang, X. Ji, Jun Sun, Xuefan Gu   +14 more
semanticscholar   +1 more source

[Cobalamin deficiency despite normal serum cobalamins].

Ugeskrift for laeger, 1992
In a man aged 77 years with normal concentrations of cobalamins in the serum, the concentration of methylmalonic acid in the serum was raised (2,920 nmol/l; 50-370 nmol/l). (The serum cobalamin concentrations were measured both by an old R-binder method (400 pmol/l; reference interval 200-800 pmol/l) and by a more recent S-binder method (164 pmol/l; 95-
K, Rasmussen, K O, Pedersen, S, Sillesen
openaire   +1 more source

Peripheral neuropathy due to cobalamin deficiency

Current Treatment Options in Neurology, 2002
Vitamin B12, or cobalamin (Cbl), deficiency can produce a number of neurologic complications, including myelopathy, peripheral neuropathy, optic neuropathy, and dementia. The myelopathy, combined systems disease, is probably the most well known manifestation, and is usually readily recognized.
David S., Saperstein, Richard J., Barohn
openaire   +2 more sources

Cobalamin-binding proteins in normal and cobalamin-deficient older subjects

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 2003
Background: The causes of cobalamin (vitamin B12) deficiency in older people are only partly understood. We investigated the role of the cobalamin-binding proteins and tested the hypothesis that low saturated transcobalamin concentration is an early marker of cobalamin deficiency.
Asselt, D.Z.B. van, Thomas, C.M.G., Segers, M.F.G., Blom, H.J., Wevers, R.A., Hoefnagels, W.H.L.   +5 more
openaire   +3 more sources

Cobalamin deficiency in the elderly: Aetiology and management. A study of 125 patients in a geriatric hospital

The Journal of Nutrition, Health & Aging, 2014
IntroductionCobalamin deficiency is frequent in elderly patients and the main aetiologies are foodcobalamin malabsorption and pernicious anaemia. The aim of our retrospective study was to identify the causes and methods of management of cobalamin ...
A. Couderc, J. Camalet, S. Schneider, J. Turpin, I. Bereder, R. Boulahssass, S. Gonfrier, P. Bayer, O. Guérin, Patrice Brocker   +9 more
semanticscholar   +1 more source

Current Concepts in Cobalamin Deficiency

Annual Review of Medicine, 2000
The application of sensitive metabolic tests, such as the deoxyuridine suppression test and measurement of homocysteine and methylmalonic acid, to cobalamin status has identified the entity of mild, preclinical cobalamin deficiency. This state, common in the elderly, responds to cobalamin therapy.
openaire   +2 more sources

Anemias excluding cobalamin and folate deficiencies

2014
Anemias are one of the commonest maladies affecting humans. They result from either a failure of production by the bone marrow (hypoproliferative), or from premature destruction or loss (hyperproliferative) of red cells. Hypoproliferative anemias typically result from deficiencies of essential nutrients, stem cell abnormalities or deficiency, and ...
Stephanie, Dublis, Shefali, Shah, Sucha, Nand, Elise, Anderes   +3 more
openaire   +2 more sources