(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

0 references

issue

3

0 references

page(s)

307-314

0 references

cites work

CDC: autism spectrum disorders common.

1 reference

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

Prevalence of autism in a US metropolitan area

21 January 2018

1 reference

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

Autism in the Faroe Islands: an epidemiological study

21 January 2018

1 reference

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

Minicolumnar pathology in autism

21 January 2018

1 reference

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

A clinicopathological study of autism.

21 January 2018

1 reference

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

Embryological origin for autism: developmental anomalies of the cranial nerve motor nuclei

21 January 2018

1 reference

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

A broader phenotype of autism: the clinical spectrum in twins

21 January 2018

1 reference

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

21 January 2018

The genetics of autism

1 reference

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

Autism in tuberous sclerosis

21 January 2018

1 reference

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

Metabolic approaches to the treatment of autism spectrum disorders.

21 January 2018

1 reference

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

Should autistic children be evaluated for mitochondrial disorders?

21 January 2018

1 reference

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

Histidinemia and infantile autism

21 January 2018

1 reference

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

Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Autism and phenylketonuria

21 January 2018

1 reference

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

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

21 January 2018

1 reference

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

Autism and genetic disorders

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

The neuropathology of phenylketonuria: human and animal studies

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Detection of phenylketonuria in autistic and psychotic children.

21 January 2018

1 reference

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

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

21 January 2018

1 reference

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

Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency

21 January 2018

1 reference

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

Autism: evidence of association with adenosine deaminase genetic polymorphism

21 January 2018

1 reference

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

Two-loci ADA haplotypes in autistic disorder

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Autism and the immune system

21 January 2018

1 reference

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

Cell surface adenosine deaminase: much more than an ectoenzyme.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

X-linked creatine transporter defect: an overview

21 January 2018

1 reference

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

High prevalence of SLC6A8 deficiency in X-linked mental retardation

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Creatine deficiency syndromes

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Guanidinoacetate methyltransferase deficiency: new clinical features.

21 January 2018

1 reference

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

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

21 January 2018

1 reference

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

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

1 reference

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

Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production

21 January 2018

1 reference

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

Neurosteroids: biochemistry and clinical significance

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome.

21 January 2018

1 reference

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

The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases

21 January 2018

1 reference

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

The mucopolysaccharidoses: a clinical review and guide to management

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Relative carnitine deficiency in autism

21 January 2018

1 reference

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

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

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

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