-
1
-
-
0000984981
-
Autistic disturbances of affective contact
-
L. Kanner Autistic disturbances of affective contact Nervous Child 2 1943 217 250
-
(1943)
Nervous Child
, vol.2
, pp. 217-250
-
-
Kanner, L.1
-
2
-
-
84856247668
-
Autism spectrum disorders: Clinical features and diagnosis
-
A. Nazeer, and M. Ghaziuddin Autism spectrum disorders: clinical features and diagnosis Pediatr Clin N Am 59 2012 19 25
-
(2012)
Pediatr Clin N Am
, vol.59
, pp. 19-25
-
-
Nazeer, A.1
Ghaziuddin, M.2
-
4
-
-
79952062168
-
Inherited metabolic rare disease
-
T. Pampols Inherited metabolic rare disease Adv Exp Med Biol 686 2010 397 431
-
(2010)
Adv Exp Med Biol
, vol.686
, pp. 397-431
-
-
Pampols, T.1
-
5
-
-
33745059650
-
Clinical approach to treatable inborn metabolic diseases: An introduction
-
J.M. Saudubray, F.N. Sedel, and J.H. Walter Clinical approach to treatable inborn metabolic diseases: an introduction J Inherit Metab Dis 29 2006 261 274
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 261-274
-
-
Saudubray, J.M.1
Sedel, F.N.2
Walter, J.H.3
-
6
-
-
35248858735
-
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults
-
F.N. Sedel, N. Baumann, and J.C. Turpin Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults J Inherit Metab Dis 30 2007 631 641
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 631-641
-
-
Sedel, F.N.1
Baumann, N.2
Turpin, J.C.3
-
8
-
-
62649125245
-
Neurometabolic disorders and dysfunction in autism spectrum disorders
-
N. Zecavati, and S.J. Spence Neurometabolic disorders and dysfunction in autism spectrum disorders Curr Neurol Neurosci Rep 9 2000 129 136
-
(2000)
Curr Neurol Neurosci Rep
, vol.9
, pp. 129-136
-
-
Zecavati, N.1
Spence, S.J.2
-
9
-
-
84866497203
-
Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions
-
M.H. Al-Owain, J. Al-Zaidan, and Z. Al-Hassnan Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions Am J Med Genet A 158A 2012 2629 2640
-
(2012)
Am J Med Genet A
, vol.158 A
, pp. 2629-2640
-
-
Al-Owain, M.H.1
Al-Zaidan, J.2
Al-Hassnan, Z.3
-
10
-
-
84863874653
-
Clinical and laboratory data in a sample of Greek children with autism spectrum disorders
-
A. Ververi, E. Vargiami, V. Papadopoulou, D. Tryfonas, and D.I. Zafeiriou Clinical and laboratory data in a sample of Greek children with autism spectrum disorders J Autism Dev Disord 42 2011 1470 1476
-
(2011)
J Autism Dev Disord
, vol.42
, pp. 1470-1476
-
-
Ververi, A.1
Vargiami, E.2
Papadopoulou, V.3
Tryfonas, D.4
Zafeiriou, D.I.5
-
13
-
-
84867687830
-
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
-
G. Novarino, P. El-Fishawy, and H. Kayserili Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy Science 338 2012 394 397
-
(2012)
Science
, vol.338
, pp. 394-397
-
-
Novarino, G.1
El-Fishawy, P.2
Kayserili, H.3
-
14
-
-
85037338406
-
Phenylalanine hydroxylase deficiency
-
R.A. Pagon, T.D. Bird, C.R. Dolan, University of Washington Seattle Accessed May 13, 2013
-
J.J. Mitchell Phenylalanine hydroxylase deficiency R.A. Pagon, T.D. Bird, C.R. Dolan, GeneReviews (Internet) 2000 University of Washington Seattle http://www.ncbi.nlm.nih.gov/books/NBK1504/ Accessed May 13, 2013
-
(2000)
GeneReviews (Internet)
-
-
Mitchell, J.J.1
-
15
-
-
0024320628
-
A Chinese classic phenylketonuria manifested as autism
-
C.H. Chen, and K.J. Hsiao A Chinese classic phenylketonuria manifested as autism Br J Psychiatry 155 1989 251 253
-
(1989)
Br J Psychiatry
, vol.155
, pp. 251-253
-
-
Chen, C.H.1
Hsiao, K.J.2
-
16
-
-
0037395936
-
Autism and phenylketonuria
-
S. Balieli, L. Pavone, C. Meli, A. Fiumara, and M. Coleman Autism and phenylketonuria J Autism Dev Disorders 33 2003 201 204
-
(2003)
J Autism Dev Disorders
, vol.33
, pp. 201-204
-
-
Balieli, S.1
Pavone, L.2
Meli, C.3
Fiumara, A.4
Coleman, M.5
-
17
-
-
67349218403
-
Executive dysfunction in treated phenylketonuric patients
-
B. Azadi, A. Seddigh, M. Tehrani-Doost, J. Alaghband-Rad, and M.R. Ashrafi Executive dysfunction in treated phenylketonuric patients Eur Child Adolesc Psychiatry 18 2009 360 368
-
(2009)
Eur Child Adolesc Psychiatry
, vol.18
, pp. 360-368
-
-
Azadi, B.1
Seddigh, A.2
Tehrani-Doost, M.3
Alaghband-Rad, J.4
Ashrafi, M.R.5
-
18
-
-
2942598072
-
Executive function impairment in early-treated PKU subjects with normal mental development
-
V. Leuzzi, M. Pansini, and E. Sechi Executive function impairment in early-treated PKU subjects with normal mental development J Inherit Metab Dis 27 2004 115 125
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 115-125
-
-
Leuzzi, V.1
Pansini, M.2
Sechi, E.3
-
19
-
-
33745098400
-
Classical organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
-
C. Dionisi-Vici, F. Deodato, and W. Roschinger Classical organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry J Inherit Metab Dis 29 2006 383 389
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 383-389
-
-
Dionisi-Vici, C.1
Deodato, F.2
Roschinger, W.3
-
20
-
-
0028605803
-
Experience of King Faisal Specialist Hospital and Research Center with Saudi organic acid disorders
-
M. Rashed, P.T. Ozand, A. Al-Aqeel, and G.G. Gascon Experience of King Faisal Specialist Hospital and Research Center with Saudi organic acid disorders Brain Dev 16 1994 1 6
-
(1994)
Brain Dev
, vol.16
, pp. 1-6
-
-
Rashed, M.1
Ozand, P.T.2
Al-Aqeel, A.3
Gascon, G.G.4
-
21
-
-
84861314800
-
Propionic acidemia associated with visual hallucinations
-
T. Shuaib, N. Al-Hashmi, and M. Ghaziuddin Propionic acidemia associated with visual hallucinations J Child Neurol 27 2011 799 803
-
(2011)
J Child Neurol
, vol.27
, pp. 799-803
-
-
Shuaib, T.1
Al-Hashmi, N.2
Ghaziuddin, M.3
-
22
-
-
84885384859
-
Autism spectrum disorder in a child with propionic acidemia
-
M. Al-Owain, N. Kaya, and Al-Shamrani Autism spectrum disorder in a child with propionic acidemia JIMD Rep 7 2013 63 66
-
(2013)
JIMD Rep
, vol.7
, pp. 63-66
-
-
Al-Owain, M.1
Kaya, N.2
Al-Shamrani3
-
23
-
-
33845391588
-
Neurobiological effects of intraventricular propionic acid in rats: Possible role of short chain fatty acids on the pathogenesis and characteristics of autism spectrum disorders
-
D.F. MacFabe, D.P. Cain, and K. Rodriguez-Capote Neurobiological effects of intraventricular propionic acid in rats: possible role of short chain fatty acids on the pathogenesis and characteristics of autism spectrum disorders Behav Brain Res 176 2007 149 169
-
(2007)
Behav Brain Res
, vol.176
, pp. 149-169
-
-
Macfabe, D.F.1
Cain, D.P.2
Rodriguez-Capote, K.3
-
24
-
-
78049463483
-
Effects of the enteric bacterial metabolic product propionic acid on object-directed behavior, social behavior, cognition, and neuroinflammation in adolescent rats: Relevance to autism spectrum disorder
-
D.F. MacFabe, N.E. Cain, and F. Boon Effects of the enteric bacterial metabolic product propionic acid on object-directed behavior, social behavior, cognition, and neuroinflammation in adolescent rats: Relevance to autism spectrum disorder Behav Brain Res 217 2011 47 54
-
(2011)
Behav Brain Res
, vol.217
, pp. 47-54
-
-
Macfabe, D.F.1
Cain, N.E.2
Boon, F.3
-
26
-
-
84864328240
-
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening
-
G.L. Arnold, D. Salazar, and J.A. Neidich Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening Mol Genet Metab 106 2012 439 441
-
(2012)
Mol Genet Metab
, vol.106
, pp. 439-441
-
-
Arnold, G.L.1
Salazar, D.2
Neidich, J.A.3
-
27
-
-
77954377790
-
Genotype and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
-
P.B. Mills, E.J. Footitt, and K.A. Mills Genotype and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) Brain 133 2010 2148 2159
-
(2010)
Brain
, vol.133
, pp. 2148-2159
-
-
Mills, P.B.1
Footitt, E.J.2
Mills, K.A.3
-
28
-
-
80052599284
-
Pyridoxine dependent epilepsy and antiquitin deficiency: Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up
-
S. Stockler, B. Plecko, and S.M. Gospe Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up Mol Genet Metab 104 2011 48 60
-
(2011)
Mol Genet Metab
, vol.104
, pp. 48-60
-
-
Stockler, S.1
Plecko, B.2
Gospe, S.M.3
-
29
-
-
84966912328
-
Adenosine deaminase deficiency
-
R.A. Pagon, T.D. Bird, C.R. Dolan, University of Washington Seattle Accessed May 13, 2013
-
M. Hershfield Adenosine deaminase deficiency R.A. Pagon, T.D. Bird, C.R. Dolan, GeneReviews (Internet) 2006 University of Washington Seattle http://www.ncbi.nlm.nih.gov/books/NBK1504/ Accessed May 13, 2013
-
(2006)
GeneReviews (Internet)
-
-
Hershfield, M.1
-
30
-
-
0026849420
-
A mutation in adenylosuccinate lyase associated with mental retardation autistic features
-
R.L. Stone, J. Aimi, and B.A. Barshop A mutation in adenylosuccinate lyase associated with mental retardation autistic features Nat Genet 1 1992 59 63
-
(1992)
Nat Genet
, vol.1
, pp. 59-63
-
-
Stone, R.L.1
Aimi, J.2
Barshop, B.A.3
-
33
-
-
85047685961
-
Autism: Evidence of association with adenosine deaminase genetic polymorphism
-
N. Bottini, D. De Luca, and P. Saccucci Autism: evidence of association with adenosine deaminase genetic polymorphism Neurogenetics 3 2001 111 113
-
(2001)
Neurogenetics
, vol.3
, pp. 111-113
-
-
Bottini, N.1
De Luca, D.2
Saccucci, P.3
-
34
-
-
37849026046
-
The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders
-
J.A. Hettinger, X. Liu, and J.J. Holden The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders J Autism Dev Disord 38 2008 14 19
-
(2008)
J Autism Dev Disord
, vol.38
, pp. 14-19
-
-
Hettinger, J.A.1
Liu, X.2
Holden, J.J.3
-
35
-
-
79954507331
-
Neurological disorders of purine and pyrimidine metabolism
-
V. Micheli, M. Camici, and M.G. Tozzi Neurological disorders of purine and pyrimidine metabolism Curr Top Med Chem 11 2011 923 947
-
(2011)
Curr Top Med Chem
, vol.11
, pp. 923-947
-
-
Micheli, V.1
Camici, M.2
Tozzi, M.G.3
-
36
-
-
26444551223
-
Disorders of purine and pyrimidine metabolism
-
W.L. Nyhan Disorders of purine and pyrimidine metabolism Mol Genet Metab 86 2005 25 33
-
(2005)
Mol Genet Metab
, vol.86
, pp. 25-33
-
-
Nyhan, W.L.1
-
37
-
-
0034472408
-
Defects of pyrimidine degration: Clinical, molecular and diagnostic aspects
-
A.H. van Gennip Defects of pyrimidine degration: clinical, molecular and diagnostic aspects Adv Exp Biol 486 2000 233 241
-
(2000)
Adv Exp Biol
, vol.486
, pp. 233-241
-
-
Van Gennip, A.H.1
-
38
-
-
84861913109
-
Biotinidase deficiency
-
B. Wolf Biotinidase deficiency Genet Med 14 2012 565 575
-
(2012)
Genet Med
, vol.14
, pp. 565-575
-
-
Wolf, B.1
-
39
-
-
0142122930
-
A case of partial biotinidase deficiency associated with autism
-
M. Zaffanello, G. Zamboni, E. Fontana, L. Zoccante, and L. Tato A case of partial biotinidase deficiency associated with autism Child Neuropsychol 9 2003 184 188
-
(2003)
Child Neuropsychol
, vol.9
, pp. 184-188
-
-
Zaffanello, M.1
Zamboni, G.2
Fontana, E.3
Zoccante, L.4
Tato, L.5
-
40
-
-
82455167843
-
Cerebral folate deficiency: A neurometabolic syndrome?
-
S. Mangold, N. Blau, and T. Opladen Cerebral folate deficiency: a neurometabolic syndrome? Mol Genet Metab 104 2011 369 372
-
(2011)
Mol Genet Metab
, vol.104
, pp. 369-372
-
-
Mangold, S.1
Blau, N.2
Opladen, T.3
-
42
-
-
44349142821
-
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits
-
V.T. Ramaekers, N. Blau, J.M. Sequeira, M.D. Nassogne, and E.V. Quadros Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits Neuropediatrics 38 2007 276 281
-
(2007)
Neuropediatrics
, vol.38
, pp. 276-281
-
-
Ramaekers, V.T.1
Blau, N.2
Sequeira, J.M.3
Nassogne, M.D.4
Quadros, E.V.5
-
44
-
-
76249097469
-
Creatine and creatine deficiency syndromes: Biochemical and clinical aspects
-
F. Nasrallah, M. Feki, and N. Kaabachi Creatine and creatine deficiency syndromes: biochemical and clinical aspects Pediatr Neurol 42 2010 163 171
-
(2010)
Pediatr Neurol
, vol.42
, pp. 163-171
-
-
Nasrallah, F.1
Feki, M.2
Kaabachi, N.3
-
45
-
-
42449146057
-
Mitochondrial involvement in psychiatric disorders
-
L. Shao, M.V. Martin, and S.J. Watson Mitochondrial involvement in psychiatric disorders Ann Med 40 2008 281 295
-
(2008)
Ann Med
, vol.40
, pp. 281-295
-
-
Shao, L.1
Martin, M.V.2
Watson, S.J.3
-
46
-
-
29544442825
-
Review of the literature on major mental disorders in adult patients with mitochondrial diseases
-
O. Fattal, K. Budur, A.J. Vaughan, and K. Franco Review of the literature on major mental disorders in adult patients with mitochondrial diseases Psychosomatics 47 2006 1 7
-
(2006)
Psychosomatics
, vol.47
, pp. 1-7
-
-
Fattal, O.1
Budur, K.2
Vaughan, A.J.3
Franco, K.4
-
47
-
-
34447132960
-
Psychiatric comorbidity in 36 adults with mitochondrial cytopathies
-
O. Fattal, J. Link, K. Quinn, B.H. Cohen, and K. Franco Psychiatric comorbidity in 36 adults with mitochondrial cytopathies CNS Spectrums 12 2007 429 438
-
(2007)
CNS Spectrums
, vol.12
, pp. 429-438
-
-
Fattal, O.1
Link, J.2
Quinn, K.3
Cohen, B.H.4
Franco, K.5
-
48
-
-
0036592842
-
Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome
-
J.J. Fillano, M.J. Goldenthal, C.H. Rhodes, and J. Marin-Garcia Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome J Child Neurol 17 2002 435 439
-
(2002)
J Child Neurol
, vol.17
, pp. 435-439
-
-
Fillano, J.J.1
Goldenthal, M.J.2
Rhodes, C.H.3
Marin-Garcia, J.4
-
49
-
-
77957983405
-
5q14.3 deletion manifesting as mitochondrial disease and autism: Case report
-
H. Ezugha, M. Goldenthal, I. Valencia, C.E. Anderson, A. Legido, and H. Marks 5q14.3 deletion manifesting as mitochondrial disease and autism: case report J Child Neurol 25 2010 1232 1235
-
(2010)
J Child Neurol
, vol.25
, pp. 1232-1235
-
-
Ezugha, H.1
Goldenthal, M.2
Valencia, I.3
Anderson, C.E.4
Legido, A.5
Marks, H.6
-
50
-
-
37549026846
-
Glucose-6-phosphate dehydrogenase deficiency
-
M.D. Cappellini, and G. Fiorelli Glucose-6-phosphate dehydrogenase deficiency Lancet 371 2008 64 74
-
(2008)
Lancet
, vol.371
, pp. 64-74
-
-
Cappellini, M.D.1
Fiorelli, G.2
-
51
-
-
62549116995
-
G6PD deficiency in autism: A case-series from Saudi Arabia
-
S.M. Al-Salehi, and M. Ghaziuddin G6PD deficiency in autism: a case-series from Saudi Arabia Eur Child Adolesc Psychiatry 18 2009 227 230
-
(2009)
Eur Child Adolesc Psychiatry
, vol.18
, pp. 227-230
-
-
Al-Salehi, S.M.1
Ghaziuddin, M.2
-
52
-
-
0034564537
-
Inborn errors of cholesterol biosynthesis
-
R.I. Kelley Inborn errors of cholesterol biosynthesis Adv Pediatr 47 2000 1 53
-
(2000)
Adv Pediatr
, vol.47
, pp. 1-53
-
-
Kelley, R.I.1
-
53
-
-
0035863666
-
Behavior phenotype in the RSH/ Smith-Lemli-Opitz syndrome
-
E. Tierny, N.A. Nwokoro, and F.D. Porter Behavior phenotype in the RSH/ Smith-Lemli-Opitz syndrome Am J Med Genet 98 2001 191 200
-
(2001)
Am J Med Genet
, vol.98
, pp. 191-200
-
-
Tierny, E.1
Nwokoro, N.A.2
Porter, F.D.3
-
54
-
-
84911894073
-
Succinic semialdehyde dehydrogenase deficiency
-
R.A. Pagon, T.D. Bird, C.R. Dolan, University of Washington, Seattle Seattle Available from: Accessed May 13, 2013
-
P.L. Pearl, T. Reehal, and I. Drillings Succinic semialdehyde dehydrogenase deficiency R.A. Pagon, T.D. Bird, C.R. Dolan, GeneReviews [Internet] 1993 University of Washington, Seattle Seattle Available from: http://www.ncbi.nlm.nih.gov/books/NBK1195/ Accessed May 13, 2013
-
(1993)
GeneReviews [Internet]
-
-
Pearl, P.L.1
Reehal, T.2
Drillings, I.3
-
56
-
-
0021084827
-
Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: An epidemiological study
-
F.D. Nidiffer, and T.E. Kelly Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study J Ment Defic Res 27 1983 185 203
-
(1983)
J Ment Defic Res
, vol.27
, pp. 185-203
-
-
Nidiffer, F.D.1
Kelly, T.E.2
-
57
-
-
0030862260
-
Evaluation of mental retardation: Recommendations of a Consensus Conference: American College of Medical Genetics
-
C.J. Curry, R.E. Stevenson, and D. Aughton Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics Am J Med Genet 72 1997 468 477
-
(1997)
Am J Med Genet
, vol.72
, pp. 468-477
-
-
Curry, C.J.1
Stevenson, R.E.2
Aughton, D.3
|