Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

Autism, Epilepsy, and Neuroregression: Photosensitivity on Electroencephalography Solved the Riddle

(2020) Priyanka Madaan et al.   CLINICAL EEG AND NEUROSCIENCE

Wilson Disease

(2020) Caitlin Mulligan et al.   NEUROLOGIC CLINICS

Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

(2020) Marc C. Patterson et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The role of Shh signalling pathway in central nervous system development and related diseases

(2020) Xiaoying Li et al.   CELL BIOCHEMISTRY AND FUNCTION

Novel therapies for mucopolysaccharidosis type III

(2020) Berna Seker Yilmaz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective

(2020) Goran Šimić et al.   Biomolecules

Therapeutic landscape for Batten disease: current treatments and future prospects

(2019) Tyler B. Johnson et al.   Nature Reviews Neurology

Cerebral folate deficiency: Analytical tests and differential diagnosis

(2019) Simon Pope et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Urea cycle disorders—update

(2019) Shirou Matsumoto et al.   JOURNAL OF HUMAN GENETICS

Prenatal Nutritional Intervention Reduces Autistic-Like Behavior Rates Among Mthfr-Deficient Mice

(2019) Ayelet Orenbuch et al.   Frontiers in Neuroscience

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

(2019) Nishitha R. Pillai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions

(2019) Kevin E. Glinton et al.   Frontiers in Psychiatry

Levels of 7alpha-hydroxycholesterol and/or 7alpha-hydroxy-4-cholest-3-one are the optimal biochemical markers for the evaluation of treatment of cerebrotendinous xanthomatosis

(2019) Dieter Lütjohann et al.   JOURNAL OF NEUROLOGY

Effects of l-Carnitine in Patients with Autism Spectrum Disorders: Review of Clinical Studies

(2019) Michele Malaguarnera et al.   MOLECULES

Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies

(2019) Erez M. Bublil et al.   BIOCHIMIE

Does the 48-hour BH4 loading test miss responsive PKU patients?

(2019) A.M.J. van Wegberg et al.   MOLECULAR GENETICS AND METABOLISM

A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria

(2019) Helene J. Bustad et al.   MOLECULAR THERAPY

Acute Intermittent Porphyria: Current Perspectives And Case Presentation

(2019) Zachary Spiritos et al.   Therapeutics and Clinical Risk Management

Classification and molecular pathogenesis of NBIA syndromes

(2018) Ivano Di Meo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis

(2018) P. Barton Duell et al.   Journal of Clinical Lipidology

Consensus clinical management guidelines for Niemann-Pick disease type C

(2018) Tarekegn Geberhiwot et al.   Orphanet Journal of Rare Diseases

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates

(2018) Sarah E. Donoghue et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Maternal and offspring MTHFR genotypes interact in a mouse model to induce ASD‐like behavior

(2018) Noa Sadigurschi et al.   GENES BRAIN AND BEHAVIOR

Cystathionine β-synthase deficiency: Of mice and men

(2017) Warren D. Kruger   MOLECULAR GENETICS AND METABOLISM

The complete European guidelines on phenylketonuria: diagnosis and treatment

(2017) A. M. J. van Wegberg et al.   Orphanet Journal of Rare Diseases

Genetics and epigenetics of autism: A Review

(2017) Mary M. Y. Waye et al.   PSYCHIATRY AND CLINICAL NEUROSCIENCES

Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells

(2016) Hye-Young H. Kim et al.   CHEMICAL RESEARCH IN TOXICOLOGY

Methylmalonic and propionic acidemias

(2016) Jamie L. Fraser et al.   CURRENT OPINION IN PEDIATRICS

Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders

(2016) Jaume Campistol et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Can psychiatric childhood disorders be due to inborn errors of metabolism?

(2016) A. Simons et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

(2016) Ivo Barić et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

(2016) Andrew A. M. Morris et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

(2016) Audrey Thurm et al.   Journal of Neurodevelopmental Disorders

Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification

(2016) Sangeetha Yoganathan et al.   NEUROPEDIATRICS

Folic acid and autism: What do we know?

(2016) Kamila Castro et al.   NUTRITIONAL NEUROSCIENCE

Inherited metabolic disorders in Turkish patients with autism spectrum disorders

(2015) Ertugrul Kiykim et al.   Autism Research

Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder

(2015) Richard E. Frye   EPILEPSY & BEHAVIOR

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency

(2015) Kevin A. Strauss et al.   MOLECULAR GENETICS AND METABOLISM

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

(2015) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

(2014) L. C. Burrage et al.   HUMAN MOLECULAR GENETICS

Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

(2014) Angels García-Cazorla et al.   HUMAN MUTATION

Adenylosuccinate lyase deficiency

(2014) Agnieszka Jurecka et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

(2014) Matthias R Baumgartner et al.   Orphanet Journal of Rare Diseases

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

(2013) Frits A Wijburg et al.   ACTA PAEDIATRICA

Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)

(2013) Martha Spilioti et al.   Frontiers in Human Neuroscience

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

(2013) G. Bradley Schaefer et al.   GENETICS IN MEDICINE

Autism Spectrum Disorders and Inborn Errors of Metabolism: An Update

(2013) Mohammad Ghaziuddin et al.   PEDIATRIC NEUROLOGY

Evidence of neurodegeneration in autism spectrum disorder

(2013) Janet K Kern et al.   Translational Neurodegeneration

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

(2012) P. B. S. Celestino-Soper et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

(2012) G. Novarino et al.   SCIENCE

Collectrin and ACE2 in renal and intestinal amino acid transport

(2011) Dustin Singer et al.   Channels

Mitochondrial Dysfunction Can Connect the Diverse Medical Symptoms Associated With Autism Spectrum Disorders

(2011) RICHARD E. FRYE et al.   PEDIATRIC RESEARCH

Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?

(2011) Manuel Schiff et al.   PLoS One

Recent developments in neuropathology of autism spectrum disorders

(2011) Dora Polšek et al.   Translational Neuroscience

MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation

(2010) Barbara S. Connolly et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Expression of inflammatory cytokines, Bcl2 and cathepsin D are altered in lymphoblasts of autistic subjects

(2010) Mazhar Malik et al.   IMMUNOBIOLOGY

Hartnup Disease Masked by Kwashiorkor

(2010) Zerrin Orbak et al.   JOURNAL OF HEALTH POPULATION AND NUTRITION

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial

(2010) Amber E. ten Hoedt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cerebral folate deficiency

(2010) Keith Hyland et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Management of phenylketonuria in Europe: Survey results from 19 countries

(2009) Nenad Blau et al.   MOLECULAR GENETICS AND METABOLISM

Efficacy of methylcobalamin and folinic acid treatment on glutathione redox status in children with autism

(2008) S Jill James et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

l-2-Hydroxyglutaric aciduria presenting with severe autistic features

(2008) D.I. Zafeiriou et al.   BRAIN & DEVELOPMENT

Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria

(2008) Kutluhan Yilmaz   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

l-2-Hydroxyglutaric aciduria, a disorder of metabolite repair

(2008) E. Van Schaftingen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A SUCCESSFULLY TREATED ADULT PATIENT WITH l-2-HYDROXYGLUTARIC ACIDURIA

(2008) M. Samuraki et al.   NEUROLOGY