-
1
-
-
79954559262
-
Neurologic disorders associated with gastrointestinal diseases, nutritional deficiencies and fluid-electrolyte disorders
-
K. Swaiman, S. Ashwal, D. Ferriero, 4th ed. Elsevier Philadelphia
-
Y. Frank, and S. Ashwal Neurologic disorders associated with gastrointestinal diseases, nutritional deficiencies and fluid-electrolyte disorders K. Swaiman, S. Ashwal, D. Ferriero, Pediatric neurology: Principles and practice 4th ed. 2006 Elsevier Philadelphia 2317
-
(2006)
Pediatric Neurology: Principles and Practice
, pp. 2317
-
-
Frank, Y.1
Ashwal, S.2
-
2
-
-
80052691489
-
Aminoacidemias and organic acidemias
-
K. Swaiman, S. Ashwal, D. Ferriero, 4th ed. Elsevier Philadelphia
-
G. Enns, T. Cowan, O. Klein, and S. Packman Aminoacidemias and organic acidemias K. Swaiman, S. Ashwal, D. Ferriero, Pediatric neurology: Principles and practice 4th ed. 2006 Elsevier Philadelphia 590 591
-
(2006)
Pediatric Neurology: Principles and Practice
, pp. 590-591
-
-
Enns, G.1
Cowan, T.2
Klein, O.3
Packman, S.4
-
3
-
-
0031890445
-
Delayed-onset profound biotnidase deficiency
-
DOI 10.1016/S0022-3476(98)70464-0
-
B. Wolf, R. Pompino, K. Norrgard, and I. Lott Delayed onset profound Biotinidase deficiency J Pediatr 132 1998 362 365 (Pubitemid 28125199)
-
(1998)
Journal of Pediatrics
, vol.132
, Issue.2
, pp. 362-365
-
-
Wolf, B.1
Pomponio, R.2
Norrgard, K.3
Lott, I.4
Baumgartner, E.R.5
Suormala, T.6
Ramaekers, V.T.7
Coskun, T.8
Tokatli, A.9
Ozalp, I.10
Hymes, J.11
-
4
-
-
0020513116
-
Phenotypic variation in biotinidase deficiency
-
B. Wolf, R.E. Grier, and R.J. Allen Phenotypic variation in biotinidase deficiency J Pediatr 103 1983 233 237 (Pubitemid 13038844)
-
(1983)
Journal of Pediatrics
, vol.103
, Issue.2
, pp. 233-237
-
-
Wolf, B.1
Grier, R.E.2
Allen, R.J.3
-
5
-
-
50449090087
-
Profound biotinidase deficiency in a child with predominantly spinal cord disease
-
K. Aziza, A. Chedrawi, and A. Ali Profound biotinidase deficiency in a child with predominantly spinal cord disease J Child Neurol 23 2008 1043 1048
-
(2008)
J Child Neurol
, vol.23
, pp. 1043-1048
-
-
Aziza, K.1
Chedrawi, A.2
Ali, A.3
-
6
-
-
34249860627
-
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients
-
DOI 10.1177/0883073807300307
-
Y. Yang, L. Choayang, and Q. Zhaoyue Spinal cord demyelination associated with biotinidase deficiency in three Chinese patients J Child Neurol 22 2007 156 160 (Pubitemid 46860413)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.2
, pp. 156-160
-
-
Yang, Y.1
Li, C.2
Qi, Z.3
Xiao, J.4
Zhang, Y.5
Yamaguchi, S.6
Hasegawa, Y.7
Tagami, Y.8
Jiang, Y.9
Xiong, H.10
Zhang, Y.11
Qin, J.12
Wu, X.-R.13
-
7
-
-
0030853668
-
Biotinidase deficiency with neurological features resembling multiple sclerosis
-
DOI 10.1023/A:1005334712056
-
A. Tokath, T. Coskun, and I. Ozalp Biotinidase deficiency with neurological features resembling multiple sclerosis J Inherit Metab Dis 20 1997 707 708 (Pubitemid 27417647)
-
(1997)
Journal of Inherited Metabolic Disease
, vol.20
, Issue.5
, pp. 707-708
-
-
Tokath, A.1
-
8
-
-
0141790229
-
Biotinidase deficiency: Clinical and MRI findings consistent with myelopathy
-
DOI 10.1016/S0887-8994(03)00042-0
-
M. Wiznitzer, and B. Bangert Biotinidase deficiency: Clinical and MRI findings consistent with myelopathy Pediatr Neurol 29 2003 56 58 (Pubitemid 37117178)
-
(2003)
Pediatric Neurology
, vol.29
, Issue.1
, pp. 56-58
-
-
Wiznitzer, M.1
Bangert, B.A.2
-
9
-
-
33745334334
-
Revised diagnostic criteria for neuromyelitis optica
-
DOI 10.1212/01.wnl.0000216139.44259.74, PII 0000611420060523000008
-
D.M. Wingerchuk, V.A. Lennon, S.J. Pittock, C.F. Lucchinetti, and B.G. Weinshenker Revised diagnostic criteria for neuromyelitis optica Neurology 66 2006 1485 1489 (Pubitemid 43958540)
-
(2006)
Neurology
, vol.66
, Issue.10
, pp. 1485-1489
-
-
Wingerchuk, D.M.1
Lennon, V.A.2
Pittock, S.J.3
Lucchinetti, C.F.4
Weinshenker, B.G.5
-
10
-
-
58849129674
-
Biotinidase deficiency with hypertonia as unusual feature
-
N. Rathi, and M. Rathi Biotinidase deficiency with hypertonia as unusual feature Indian Pediatr 46 2009 65 67
-
(2009)
Indian Pediatr
, vol.46
, pp. 65-67
-
-
Rathi, N.1
Rathi, M.2
-
11
-
-
52049087584
-
Leigh and Leigh-like syndrome in children and adults
-
J. Finsterer Leigh and Leigh-like syndrome in children and adults Pediatr Neurol 39 2008 223 235
-
(2008)
Pediatr Neurol
, vol.39
, pp. 223-235
-
-
Finsterer, J.1
-
12
-
-
0003436550
-
-
MIM number 253260: 9/15/2009. Baltimore: John Hopkins University, URL
-
Online Mendelian Inheritance in Man. MIM number 253260: 9/15/2009. Baltimore: John Hopkins University, URL: http://www.ncbi.nlm.nih.gov/omim/.
-
Online Mendelian Inheritance in Man
-
-
-
13
-
-
0035162546
-
Mutations in BTD causing biotinidase deficiency
-
DOI 10.1002/humu.1208
-
Hymes J, Stanley C, Wolf B. Mutation in BTD causing biotinidase deficiency. Hum Mutat 2001;18:375-381. (Pubitemid 33055006)
-
(2001)
Human Mutation
, vol.18
, Issue.5
, pp. 375-381
-
-
Hymes, J.1
Stanley, C.M.2
Wolf, B.3
-
14
-
-
33645861209
-
Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates
-
B. Wolf, K. Jensen, and B. Barshop Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates Hum Mutat 25 2005 413
-
(2005)
Hum Mutat
, vol.25
, pp. 413
-
-
Wolf, B.1
Jensen, K.2
Barshop, B.3
-
15
-
-
33947307505
-
Hearing Loss in Biotinidase Deficiency: Genotype-Phenotype Correlation
-
DOI 10.1016/j.jpeds.2007.01.036, PII S0022347607001059
-
H.S. Sevri, G.A. Genc, and A. Tokatli Hearing loss in biotinidase deficiency: Genotype-phenotype correlation J Pediatr 150 2007 439 442 (Pubitemid 46437324)
-
(2007)
Journal of Pediatrics
, vol.150
, Issue.4
, pp. 439-442
-
-
Sivri, H.S.K.1
Genc, G.A.2
Tokatly, A.3
Dursun, A.4
Cothkun, T.5
Aydyn, H.Y.6
Sennarolu, L.7
Belgin, E.8
Jensen, K.9
Wolf, B.10
|