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Autism: a review, 2003
This is a review of autism spectrum disorders. It presents the symptoms of the disease discussing the age of diagnosis and first symptoms encountered. It is a... 
Neurology | Pediatrics | autism, clinical and genetic aspects of autism, intervention in autism pn03012
Journal
Annals of Neurology, ISSN 0364-5134, 11/2012, Volume 72, Issue 5, pp. 822 - 823
Journal Article
Annals of Neurology, ISSN 0364-5134, 11/2012, Volume 72, Issue 5, pp. 822 - 823
Journal Article
Annals of Neurology, ISSN 0364-5134, 11/2012, Volume 72, Issue 5, pp. 822 - 823
Journal Article
Annals of Neurology, ISSN 0364-5134, 11/2012, Volume 72, Issue 5, p. 822
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 2003, Volume 1, Issue 2, pp. 55 - 67
Journal Article
Annals of Neurology, ISSN 0364-5134, 04/2012, Volume 71, Issue 4, pp. 498 - 508
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2013, Volume 36, Issue 5, pp. 813 - 820
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 11/2006, Volume 21, Issue 11, pp. 971 - 972
We describe an 11-year-old Saudi boy who had an encephalopathy suggestive of mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes... 
MELAS Syndrome - genetics | Point Mutation | DNA, Mitochondrial - genetics | Anticodon - genetics | Humans | Male | RNA, Transfer, Leu - chemistry | Nucleic Acid Conformation | Child | RNA, Transfer, Leu - genetics
Journal Article
Journal Article
PEDIATRIC RESEARCH, ISSN 0031-3998, 09/1995, Volume 38, Issue 3, pp. 324 - 331
Acylcarnitine profiling from blood or plasma samples by electrospray tandem mass spectrometry (ESI-MS/MS) has been recognized recently as a useful tool in the... 
MEDIUM-CHAIN | PEDIATRICS | DEFICIENCY | Blood Chemical Analysis - methods | Amino Acids - blood | Automation | Metabolism, Inborn Errors - diagnosis | Humans | Sensitivity and Specificity | Neonatal Screening - methods | Mass Spectrometry - methods | Infant, Newborn | Acetylcarnitine - blood
Journal Article
NEUROLOGY, ISSN 0028-3878, 10/2004, Volume 63, Issue 7, pp. 1305 - 1308
The authors sequenced the entire mitochondrial DNA coding region in a group of 19 patients with non-arteritic anterior ischemic optic neuropathy (NAION) and in... 
GENE | CLINICAL NEUROLOGY | Amino Acid Sequence | Humans | Middle Aged | Male | Optic Atrophy, Hereditary, Leber - genetics | Point Mutation | Conserved Sequence | Adult | Female | Aged | Mutation | Optic Neuropathy, Ischemic - genetics | DNA, Mitochondrial - chemistry
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 2011, Volume 4, Issue 1, pp. 9 - 9
Background: Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these... 
12Q | ANDROGEN RECEPTOR | SMRT | COREPRESSOR | GENETICS & HEREDITY | NUCLEAR RECEPTOR | Genetic aspects | Research | Gene mutations | Health aspects | Developmental delay | Risk factors
Journal Article
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