-
1
-
-
48249125816
-
Causes of vitamin B12 and folate deficiency
-
Allen L.H. Causes of vitamin B12 and folate deficiency. Food Nutr Bull 2008, 29:20-34.
-
(2008)
Food Nutr Bull
, vol.29
, pp. 20-34
-
-
Allen, L.H.1
-
2
-
-
58549094505
-
Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF
-
Ament A.E., Li Z., Sturm A.C., et al. Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF. Br J Haematol 2008, 144:622-624.
-
(2008)
Br J Haematol
, vol.144
, pp. 622-624
-
-
Ament, A.E.1
Li, Z.2
Sturm, A.C.3
-
3
-
-
70349297480
-
The tinker, tailor, soldier in intracellular B12 trafficking
-
Banerjee R., Gherasim C., Padovani D. The tinker, tailor, soldier in intracellular B12 trafficking. Curr Opin Chem Biol 2009, 13:484-491.
-
(2009)
Curr Opin Chem Biol
, vol.13
, pp. 484-491
-
-
Banerjee, R.1
Gherasim, C.2
Padovani, D.3
-
4
-
-
79851503576
-
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency
-
Banka S., Blom H.J., Walter J., et al. Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. Am J Hum Genet 2011, 88:216-225.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 216-225
-
-
Banka, S.1
Blom, H.J.2
Walter, J.3
-
5
-
-
53349154689
-
Biotin-responsive disorders
-
Springer, Berlin Heidelberg, J. Fernandes, J.-M. Saudubray, G. van dern Berge (Eds.)
-
Baumgartner M.R., Suormala T. Biotin-responsive disorders. Inborn Metabolic Diseases 2006, 331-339. Springer, Berlin Heidelberg. 4th edn. J. Fernandes, J.-M. Saudubray, G. van dern Berge (Eds.).
-
(2006)
Inborn Metabolic Diseases
, pp. 331-339
-
-
Baumgartner, M.R.1
Suormala, T.2
-
6
-
-
73949095906
-
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update
-
Bergmann A.K., Sahai I., Falcone J.F., et al. Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update. J Pediatr 2009, 155:888-892.
-
(2009)
J Pediatr
, vol.155
, pp. 888-892
-
-
Bergmann, A.K.1
Sahai, I.2
Falcone, J.F.3
-
7
-
-
33747588534
-
Neural tube defects and folate: case far from closed
-
Blom H.J., Shaw G.M., Den Heijer M., et al. Neural tube defects and folate: case far from closed. Nat Rev Neurosci 2006, 7:724-731.
-
(2006)
Nat Rev Neurosci
, vol.7
, pp. 724-731
-
-
Blom, H.J.1
Shaw, G.M.2
Den Heijer, M.3
-
8
-
-
79851500161
-
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease
-
Cario H., Smith D.E.C., Blom H., et al. Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. Am J Hum Genet 2011, 88:226-231.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 226-231
-
-
Cario, H.1
Smith, D.E.C.2
Blom, H.3
-
9
-
-
0031889483
-
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families
-
Cavalier L., Ouahchi K., Kayden H.J., et al. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet 1998, 62:301-310.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 301-310
-
-
Cavalier, L.1
Ouahchi, K.2
Kayden, H.J.3
-
10
-
-
53049088761
-
Neurological consequences of vitamin B12 deficiency and its treatment
-
Chalouhi C., Faesch S., Anthoine-Milhomme M.C., et al. Neurological consequences of vitamin B12 deficiency and its treatment. Pediatr Emerg Care 2008, 24:538-541.
-
(2008)
Pediatr Emerg Care
, vol.24
, pp. 538-541
-
-
Chalouhi, C.1
Faesch, S.2
Anthoine-Milhomme, M.C.3
-
11
-
-
41649092991
-
Gene identification for the cblD defect of vitamin B12 metabolism
-
Coelho D., Suormala T., Stucki M., et al. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med 2008, 358:1454-1464.
-
(2008)
N Engl J Med
, vol.358
, pp. 1454-1464
-
-
Coelho, D.1
Suormala, T.2
Stucki, M.3
-
13
-
-
74949104831
-
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations
-
Debs R., Depienne C., Rastetter A., et al. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol 2010, 67:126-130.
-
(2010)
Arch Neurol
, vol.67
, pp. 126-130
-
-
Debs, R.1
Depienne, C.2
Rastetter, A.3
-
14
-
-
43049115794
-
12 deficiency on neurodevelopment in infants: current knowledge and possible mechanisms
-
12 deficiency on neurodevelopment in infants: current knowledge and possible mechanisms. Nutr Rev 2008, 66:250-255.
-
(2008)
Nutr Rev
, vol.66
, pp. 250-255
-
-
Dror, D.K.1
Allen, L.H.2
-
15
-
-
17844395213
-
Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula
-
Fattal-Valevski A., Kesler A., Sela B.A., et al. Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula. Pediatrics 2005, 115:233-238.
-
(2005)
Pediatrics
, vol.115
, pp. 233-238
-
-
Fattal-Valevski, A.1
Kesler, A.2
Sela, B.A.3
-
16
-
-
45849132005
-
Causes of and diagnostic approach to methylmalonic acidurias
-
Fowler B., Leonard J.V., Baumgartner M.R. Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 2008, 31:350-360.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 350-360
-
-
Fowler, B.1
Leonard, J.V.2
Baumgartner, M.R.3
-
17
-
-
65449119303
-
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
-
Gallagher R.C., Van Hove J.L., Scharer G., et al. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 2009, 65:550-556.
-
(2009)
Ann Neurol
, vol.65
, pp. 550-556
-
-
Gallagher, R.C.1
Van Hove, J.L.2
Scharer, G.3
-
18
-
-
42249111723
-
Mitochondrial diseases associated with cerebral folate deficiency
-
Garcia-Cazorla A., Quadros E.V., Nascimento A., et al. Mitochondrial diseases associated with cerebral folate deficiency. Neurology 2008, 70:1360-1362.
-
(2008)
Neurology
, vol.70
, pp. 1360-1362
-
-
Garcia-Cazorla, A.1
Quadros, E.V.2
Nascimento, A.3
-
19
-
-
63349094159
-
Cerebral folate deficiency
-
Gordon N. Cerebral folate deficiency. Dev Med Child Neurol 2009, 51:180-182.
-
(2009)
Dev Med Child Neurol
, vol.51
, pp. 180-182
-
-
Gordon, N.1
-
20
-
-
0001601083
-
Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome
-
Gräsbeck R., Gordin R., Kantero I., et al. Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome. Acta Med Scand 1960, 167:289-296.
-
(1960)
Acta Med Scand
, vol.167
, pp. 289-296
-
-
Gräsbeck, R.1
Gordin, R.2
Kantero, I.3
-
21
-
-
0026528815
-
The neurological aspects of transcobalamin II deficiency
-
Hall C.A. The neurological aspects of transcobalamin II deficiency. Br J Haematol 1992, 80:117-120.
-
(1992)
Br J Haematol
, vol.80
, pp. 117-120
-
-
Hall, C.A.1
-
22
-
-
34547617321
-
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)
-
Hörster F., Baumgartner M.R., Viardot C., et al. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 2007, 62:225-230.
-
(2007)
Pediatr Res
, vol.62
, pp. 225-230
-
-
Hörster, F.1
Baumgartner, M.R.2
Viardot, C.3
-
23
-
-
33750947653
-
Diagnosis and treatment of vitamin B12 deficiency. An update
-
Hvas A.M., Nexo E. Diagnosis and treatment of vitamin B12 deficiency. An update. Haematologica 2006, 91:1506-1512.
-
(2006)
Haematologica
, vol.91
, pp. 1506-1512
-
-
Hvas, A.M.1
Nexo, E.2
-
24
-
-
72849184034
-
Idiopathic chronic megaloblastic anemia in children
-
Imerslund O. Idiopathic chronic megaloblastic anemia in children. Acta Paediatr Suppl 1960, 49:111-115.
-
(1960)
Acta Paediatr Suppl
, vol.49
, pp. 111-115
-
-
Imerslund, O.1
-
25
-
-
0015531035
-
Vitamin B12 malabsorption due to a biologically inert intrinsic factor
-
Katz M., Lee S.K., Cooper B.A. Vitamin B12 malabsorption due to a biologically inert intrinsic factor. N Engl J Med 1972, 287:425-429.
-
(1972)
N Engl J Med
, vol.287
, pp. 425-429
-
-
Katz, M.1
Lee, S.K.2
Cooper, B.A.3
-
26
-
-
0242523212
-
Rare forms of autosomal recessive neurodegenerative ataxia
-
Koenig M. Rare forms of autosomal recessive neurodegenerative ataxia. Semin Pediatr Neurol 2003, 10:183-192.
-
(2003)
Semin Pediatr Neurol
, vol.10
, pp. 183-192
-
-
Koenig, M.1
-
27
-
-
65949123568
-
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy
-
Kono S., Miyajima H., Yoshida K., et al. Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. N Engl J Med 2009, 360:1792-1794.
-
(2009)
N Engl J Med
, vol.360
, pp. 1792-1794
-
-
Kono, S.1
Miyajima, H.2
Yoshida, K.3
-
28
-
-
67649662233
-
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations
-
Lerner-Ellis J.P., Anastasio N., Liu J., et al. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat 2009, 30:1072-1081.
-
(2009)
Hum Mutat
, vol.30
, pp. 1072-1081
-
-
Lerner-Ellis, J.P.1
Anastasio, N.2
Liu, J.3
-
29
-
-
85019228917
-
Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS
-
Luder A.S., Tanner S.M., De La Chapelle A., et al. Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS. J Inherit Metab Dis online 2008, 10.1007/s10545-007-0760-2.
-
(2008)
J Inherit Metab Dis online
-
-
Luder, A.S.1
Tanner, S.M.2
De La Chapelle, A.3
-
30
-
-
0036087879
-
Biotin dependency due to a defect in biotin transport
-
Mardach R., Zempleni J., Wolf B., et al. Biotin dependency due to a defect in biotin transport. J Clin Invest 2002, 109:1617-1623.
-
(2002)
J Clin Invest
, vol.109
, pp. 1617-1623
-
-
Mardach, R.1
Zempleni, J.2
Wolf, B.3
-
31
-
-
4344617804
-
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families
-
Mariotti C., Gellera C., Rimoldi M., et al. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci 2004, 25:130-137.
-
(2004)
Neurol Sci
, vol.25
, pp. 130-137
-
-
Mariotti, C.1
Gellera, C.2
Rimoldi, M.3
-
32
-
-
62649165061
-
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism
-
Miousse I.R., Watkins D., Coelho D., et al. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. J Pediatr 2009, 154:551-556.
-
(2009)
J Pediatr
, vol.154
, pp. 551-556
-
-
Miousse, I.R.1
Watkins, D.2
Coelho, D.3
-
33
-
-
0031817568
-
Biotin-responsive basal ganglia disease: a novel entity
-
Ozand P.T., Gascon G.G., Al Essa M., et al. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998, 121:1267-1279.
-
(1998)
Brain
, vol.121
, pp. 1267-1279
-
-
Ozand, P.T.1
Gascon, G.G.2
Al Essa, M.3
-
34
-
-
72649089540
-
Advances in the understanding of cobalamin assimilation and metabolism
-
Quadros E.V. Advances in the understanding of cobalamin assimilation and metabolism. Br J Haematol 2009, 148:195-204.
-
(2009)
Br J Haematol
, vol.148
, pp. 195-204
-
-
Quadros, E.V.1
-
36
-
-
33751244559
-
Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption
-
Qui A., Jansen M., Sakaris A., et al. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell 2006, 127:917-928.
-
(2006)
Cell
, vol.127
, pp. 917-928
-
-
Qui, A.1
Jansen, M.2
Sakaris, A.3
-
37
-
-
0027209301
-
Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease
-
Rader D.J., Brewer H.B. Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. JAMA 1993, 270:865-869.
-
(1993)
JAMA
, vol.270
, pp. 865-869
-
-
Rader, D.J.1
Brewer, H.B.2
-
38
-
-
18344395924
-
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome
-
Ramaekers V.T., Rothenberg S.P., Sequeira J.M., et al. Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. N Engl J Med 2005, 352:1985-1991.
-
(2005)
N Engl J Med
, vol.352
, pp. 1985-1991
-
-
Ramaekers, V.T.1
Rothenberg, S.P.2
Sequeira, J.M.3
-
39
-
-
0034746436
-
Vitamin B12 deficiency in children and adolescents
-
Rasmussen S.A., Fernhoff P.M., Scanlon K.S. Vitamin B12 deficiency in children and adolescents. J Pediatr 2001, 138:10-17.
-
(2001)
J Pediatr
, vol.138
, pp. 10-17
-
-
Rasmussen, S.A.1
Fernhoff, P.M.2
Scanlon, K.S.3
-
40
-
-
70349733037
-
Transcobalamin II deficiency at birth
-
Ratschmann R., Minkov M., Kis A., et al. Transcobalamin II deficiency at birth. Mol Genet Metab 2009, 98:285-288.
-
(2009)
Mol Genet Metab
, vol.98
, pp. 285-288
-
-
Ratschmann, R.1
Minkov, M.2
Kis, A.3
-
41
-
-
75749130233
-
Disorders of cobalamin and folate transport and metabolism
-
Springer, Berlin Heidelberg, J. Fernandes, J.-M. Saudubray, G. van dern Berge (Eds.)
-
Rosenblatt D.S., Fowler B. Disorders of cobalamin and folate transport and metabolism. Inborn Metabolic Diseases 2006, 341-356. Springer, Berlin Heidelberg. 4th edn. J. Fernandes, J.-M. Saudubray, G. van dern Berge (Eds.).
-
(2006)
Inborn Metabolic Diseases
, pp. 341-356
-
-
Rosenblatt, D.S.1
Fowler, B.2
-
42
-
-
59149091781
-
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
-
Rutsch F., Gailus S., Miousse I.R., et al. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet 2009, 41:234-239.
-
(2009)
Nat Genet
, vol.41
, pp. 234-239
-
-
Rutsch, F.1
Gailus, S.2
Miousse, I.R.3
-
43
-
-
34047268403
-
Wernicke's encephalopathy: new clinical settings and recent advances in diagnosis and management
-
Sechi G.P., Serra A. Wernicke's encephalopathy: new clinical settings and recent advances in diagnosis and management. Lancet Neurol 2007, 6:442-455.
-
(2007)
Lancet Neurol
, vol.6
, pp. 442-455
-
-
Sechi, G.P.1
Serra, A.2
-
44
-
-
69449106758
-
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism
-
Steinfeld R., Grapp M., Kraetzner R., et al. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet 2009, 85:254-263.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 254-263
-
-
Steinfeld, R.1
Grapp, M.2
Kraetzner, R.3
-
45
-
-
84857676447
-
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism
-
Stucki M., Coelho D., Suormala T., et al. Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. Hum Mol Genet 2012, 21:1410-1418.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 1410-1418
-
-
Stucki, M.1
Coelho, D.2
Suormala, T.3
-
46
-
-
20144372885
-
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene
-
Tanner S.M., Li Z., Perko J.D., et al. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. PNAS 2005, 102:4130-4133.
-
(2005)
PNAS
, vol.102
, pp. 4130-4133
-
-
Tanner, S.M.1
Li, Z.2
Perko, J.D.3
-
47
-
-
10744232322
-
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
-
Vilaseca M.A., Vilarinho L., Zavadakova P., et al. CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. J Inherit Metab Dis 2003, 26:361-369.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 361-369
-
-
Vilaseca, M.A.1
Vilarinho, L.2
Zavadakova, P.3
-
49
-
-
67651227805
-
Megaloblastic anemia
-
Saunders Elsevier, Philadelphia, S.H. Orkin, D. Ginsburg, D.A. Nathan (Eds.)
-
Watkins D., Whitehead V.M., Rosenblatt D.S. Megaloblastic anemia. Nathan and Oski's Hematology of Infancy and Childhood 2009, 467-520. Saunders Elsevier, Philadelphia. 7th edn. S.H. Orkin, D. Ginsburg, D.A. Nathan (Eds.).
-
(2009)
Nathan and Oski's Hematology of Infancy and Childhood
, pp. 467-520
-
-
Watkins, D.1
Whitehead, V.M.2
Rosenblatt, D.S.3
-
50
-
-
80052574435
-
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
-
Watkins D., Schwartzentruber J.A., Ganesh J., et al. Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. J Med Genet 2011, 48:590-592.
-
(2011)
J Med Genet
, vol.48
, pp. 590-592
-
-
Watkins, D.1
Schwartzentruber, J.A.2
Ganesh, J.3
-
51
-
-
33745146118
-
Acquired and inherited disorders of cobalamin and folate in children
-
Whitehead V.M. Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol 2006, 134:125-136.
-
(2006)
Br J Haematol
, vol.134
, pp. 125-136
-
-
Whitehead, V.M.1
-
52
-
-
64449086828
-
Late onset optic neuropathy in methylmalonic and propionic acidemia
-
Williams Z.R., Hurley P.E., Altiparmak U.E., et al. Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol 2009, 147:929-933.
-
(2009)
Am J Ophthalmol
, vol.147
, pp. 929-933
-
-
Williams, Z.R.1
Hurley, P.E.2
Altiparmak, U.E.3
-
53
-
-
77950517873
-
Clinical issues and frequent questions about biotinidase deficiency
-
Wolf B. Clinical issues and frequent questions about biotinidase deficiency. Mol Genet Metab 2010, 100:6-13.
-
(2010)
Mol Genet Metab
, vol.100
, pp. 6-13
-
-
Wolf, B.1
-
54
-
-
78650295909
-
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations
-
Yamada K., Miura K., Hara K., et al. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Med Genet 2010, 11:171.
-
(2010)
BMC Med Genet
, vol.11
, pp. 171
-
-
Yamada, K.1
Miura, K.2
Hara, K.3
-
56
-
-
20544449737
-
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
-
Zeng W.Q., Al-Yamani E., Acierno J.S., et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 2005, 77:16-26.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 16-26
-
-
Zeng, W.Q.1
Al-Yamani, E.2
Acierno, J.S.3
-
57
-
-
34548026299
-
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption
-
Zhao R., Min S.H., Qiu A., et al. The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. Blood 2007, 110:1147-1152.
-
(2007)
Blood
, vol.110
, pp. 1147-1152
-
-
Zhao, R.1
Min, S.H.2
Qiu, A.3
|