Autism and Metabolic Diseases (Q22241822)

7 February 2023

A. L. Loizzo

series ordinal

2

author given names

Anna Livia

author last names

Loizzo

1 reference

7 February 2023

G. Giana

series ordinal

3

author given names

Grazia

author last names

Giana

1 reference

7 February 2023

P. Curatolo

series ordinal

4

author given names

Paolo

author last names

Curatolo

1 reference

Journal of Child Neurology

7 February 2023

language of work or name

English

0 references

publication date

11 January 2008

0 references

published in

0 references

volume

23

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issue

3

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page(s)

307-314

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Metabolic approaches to the treatment of autism spectrum disorders.

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Should autistic children be evaluated for mitochondrial disorders?

21 January 2018

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Histidinemia and infantile autism

21 January 2018

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Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency

21 January 2018

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Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

21 January 2018

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A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase

21 January 2018

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Autism and phenylketonuria

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Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

21 January 2018

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Autism and genetic disorders

21 January 2018

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Intelligence patterns among children with high-functioning autism, phenylketonuria, and childhood head injury

21 January 2018

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21 January 2018

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Inhibition by L-phenylalanine of tryptophan transport by synaptosomal plasma membrane vesicles: implications in the pathogenesis of phenylketonuria

21 January 2018

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Detection of phenylketonuria in autistic and psychotic children.

21 January 2018

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Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

21 January 2018

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Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency

21 January 2018

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Autism: evidence of association with adenosine deaminase genetic polymorphism

21 January 2018

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Two-loci ADA haplotypes in autistic disorder

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Interaction between purinoceptor subtypes on hippocampal serotonergic transmission using in vivo microdialysis

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Autism and the immune system

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Cell surface adenosine deaminase: much more than an ectoenzyme.

21 January 2018

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Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans

21 January 2018

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Creatine deficiency in the brain: a new, treatable inborn error of metabolism

21 January 2018

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X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

21 January 2018

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Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

21 January 2018

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GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis

21 January 2018

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Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

21 January 2018

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Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

21 January 2018

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X-linked creatine transporter defect: an overview

21 January 2018

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High prevalence of SLC6A8 deficiency in X-linked mental retardation

21 January 2018

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Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

21 January 2018

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Creatine deficiency syndromes

21 January 2018

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X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism

21 January 2018

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Guanidinoacetate methyltransferase deficiency: new clinical features

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073807308698

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

21 January 2018

1 reference

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Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807308698

Mutations in the human DHCR7 gene

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073807308698

Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome

21 January 2018

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Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

21 January 2018

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The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

21 January 2018

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Thematic review series: brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal

21 January 2018

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Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome).

21 January 2018

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21 January 2018

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Neurosteroids: biochemistry and clinical significance

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073807308698

Lowered DHEA-S plasma levels in adult individuals with autistic disorder

21 January 2018

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Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

21 January 2018

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21 January 2018

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21 January 2018

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The mucopolysaccharidoses: a clinical review and guide to management

21 January 2018

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Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

21 January 2018

1 reference

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Relative carnitine deficiency in autism

21 January 2018

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Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807308698

Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome

21 January 2018

1 reference

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Mitochondrial dysfunction in autistic patients with 15q inverted duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807308698

Mitochondrial DNA abnormalities and autistic spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807308698

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807308698

A case of partial biotinidase deficiency associated with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807308698

Adenosine deaminase alleles and autistic disorder: Case-control and family-based association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807308698

7 January 2021

Reversible brain creatine deficiency in two sisters with normal blood creatine level

1 reference

https://api.crossref.org/works/10.1177%2F0883073807308698

7 January 2021

Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome

1 reference

https://api.crossref.org/works/10.1177%2F0883073807308698

7 January 2021

Effect of uridine administration to a patient with adenylosuccinate lyase deficiency

1 reference

https://api.crossref.org/works/10.1177%2F0883073807308698

7 January 2021

Children with autistic behavior in a self-contained unit in the public schools.

1 reference

https://api.crossref.org/works/10.1177%2F0883073807308698

7 January 2021

Identifiers

DOI

10.1177/0883073807308698

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017