The neuropsychiatry of inborn errors of metabolism

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

(2012) Bwee Tien Poll-The et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Tetrabenazine for the Treatment of Hyperkinetic Movement Disorders: A Review of the Literature

(2012) Jack J. Chen et al.   CLINICAL THERAPEUTICS

Valproate-induced hyperammonemic encephalopathy: an update on risk factors, clinical correlates and management

(2012) Amit Chopra et al.   GENERAL HOSPITAL PSYCHIATRY

A Case of Adult-onset Adrenoleukodystrophy with Frontal Lobe Dysfunction: A Novel Point Mutation in the ABCD1 Gene

(2012) Shinichiro Inoue et al.   INTERNAL MEDICINE

Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues

(2012) Wendy Packman et al.   Journal of Genetic Counseling

Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases

(2012) Chiara Cazzorla et al.   MOLECULAR GENETICS AND METABOLISM

Acute Intermittent Porphyria Presenting Solely with Psychosis: A Case Report and Discussion

(2012) Bharat Kumar   PSYCHOSOMATICS

Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables

(2011) M. Walterfang et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Misdiagnosed Postpartum Psychosis Revealing a Late-Onset Urea Cycle Disorder

(2011) Thomas Fassier et al.   AMERICAN JOURNAL OF PSYCHIATRY

Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency

(2011) M. Kornfeld   CLINICAL NEUROPATHOLOGY

Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis

(2011) D. Wallon et al.   CLINICAL NEUROPATHOLOGY

γ-Hydroxybutyric acid-induced psychosis and seizures

(2011) Annachiara Cagnin et al.   EPILEPSY & BEHAVIOR

Alteration of the CNS pathway to the hippocampus in a mouse model of Niemann–Pick, type C disease

(2011) Kyunghee Byun et al.   JOURNAL OF CHEMICAL NEUROANATOMY

Brain MRI findings in patients with Fabry disease

(2011) Ricardo C. Reisin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life

(2011) Machtelt G. Bouwman et al.   MOLECULAR GENETICS AND METABOLISM

Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit

(2011) María J. González et al.   MOLECULAR GENETICS AND METABOLISM

Movement disorders in adult surviving patients with maple syrup urine disease

(2011) Miryam Carecchio et al.   MOVEMENT DISORDERS

Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann–Pick type C1 mice

(2011) Sarah N.R. Pressey et al.   NEUROBIOLOGY OF DISEASE

Headache and neuropsychic disorders in the puerperium: a case report with suspected deficiency of urea cycle enzymes

(2011) Maria Clara Tonini et al.   NEUROLOGICAL SCIENCES

Investigating anxiety and depressive-like phenotypes in genetic mouse models of serotonin depletion

(2011) Sebastian P. Fernandez et al.   NEUROPHARMACOLOGY

Developmental trajectories during adolescence in males and females: A cross-species understanding of underlying brain changes

(2011) Heather C. Brenhouse et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Fabry’s Disease and Psychosis: Causality or Coincidence?

(2011) S. Gairing et al.   PSYCHOPATHOLOGY

Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations

(2010) Chiung-Chih Chang et al.   BMC Neurology

Meta-analysis of MTHFR gene variants in schizophrenia, bipolar disorder and unipolar depressive disorder: Evidence for a common genetic vulnerability?

(2010) Odette L.J. Peerbooms et al.   BRAIN BEHAVIOR AND IMMUNITY

Neurocognitive Profile in a Case of Maple Syrup Urine Disease

(2010) Karin S. Walsh et al.   CLINICAL NEUROPSYCHOLOGIST

Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C

(2010) John V Campo et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Childhood psychiatric disorders as anomalies in neurodevelopmental trajectories

(2010) Philip Shaw et al.   HUMAN BRAIN MAPPING

Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study

(2010) Perri Segal et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis

(2010) S. Guerrera et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cellular and Synaptic Mechanisms of Anti-NMDA Receptor Encephalitis

(2010) E. G. Hughes et al.   JOURNAL OF NEUROSCIENCE

Clinical experience and laboratory investigations in patients with anti-NMDAR encephalitis

(2010) Josep Dalmau et al.   LANCET NEUROLOGY

Brain imaging in urea cycle disorders

(2010) Andrea Gropman   MOLECULAR GENETICS AND METABOLISM

Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU)

(2010) Barbara K. Burton et al.   MOLECULAR GENETICS AND METABOLISM

Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings

(2010) Chen-San Su et al.   MOVEMENT DISORDERS

White and gray matter alterations in adults with Niemann-Pick disease type C: A cross-sectional study

(2010) M. Walterfang et al.   NEUROLOGY

Dysconnectivity in schizophrenia: Where are we now?

(2010) William Pettersson-Yeo et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Depressive-like behaviors alterations induced by intranigral MPTP, 6-OHDA, LPS and rotenone models of Parkinson's disease are predominantly associated with serotonin and dopamine

(2010) Ronise M. Santiago et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency

(2010) V. R. Thurlow et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease

(2009) W. J. Zinnanti et al.   BRAIN

Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis

(2009) P.C.G. Nijssen et al.   CLINICAL NEUROPHYSIOLOGY

Alcohol withdrawal seizures

(2009) John R. Hughes   EPILEPSY & BEHAVIOR

Niemann–Pick disease type C1 presenting with psychosis in an adolescent male

(2009) Sabine Sandu et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Neurometabolic disorders

(2009) Jean-Marie Saudubray   JOURNAL OF INHERITED METABOLIC DISEASE

Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C

(2009) M. Walterfang et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?

(2009) F. J. van Spronsen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey

(2009) A Mehta et al.   JOURNAL OF MEDICAL GENETICS

Gabapentin-Induced Delirium and Dependence

(2009) Stefan P. Kruszewski et al.   Journal of Psychiatric Practice

Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis

(2009) Marieke Hoeksma et al.   MOLECULAR GENETICS AND METABOLISM

Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses☆

(2009) M.J. de Groot et al.   MOLECULAR GENETICS AND METABOLISM

Classical maple syrup urine disease and brain development: Principles of management and formula design

(2009) Kevin A. Strauss et al.   MOLECULAR GENETICS AND METABOLISM

Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: A DTI study of the corpus callosum☆

(2009) Desiree A. White et al.   MOLECULAR GENETICS AND METABOLISM

Disruption of prefrontal function and connectivity in individuals with phenylketonuria☆

(2009) Shawn E. Christ et al.   MOLECULAR GENETICS AND METABOLISM

Beyond executive function: Non-executive cognitive abilities in individuals with PKU☆

(2009) Darren Janzen et al.   MOLECULAR GENETICS AND METABOLISM

White matter pathology in phenylketonuria☆

(2009) Peter J. Anderson et al.   MOLECULAR GENETICS AND METABOLISM

Psychosocial aspects of PKU: Hidden disabilities – A review☆

(2009) J.K. Gentile et al.   MOLECULAR GENETICS AND METABOLISM

Executive function in early-treated phenylketonuria: Profile and underlying mechanisms☆☆☆

(2009) Shawn E. Christ et al.   MOLECULAR GENETICS AND METABOLISM

Psychiatric symptoms and disorders in phenylketonuria☆

(2009) V.L. Brumm et al.   MOLECULAR GENETICS AND METABOLISM

Normal Development of Brain Circuits

(2009) Gregory Z Tau et al.   NEUROPSYCHOPHARMACOLOGY

Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria

(2009) Renzo Manara et al.   NEURORADIOLOGY

Diffusion Tensor Imaging in Arginase Deficiency Reveals Damage to Corticospinal Tracts

(2009) Michael S. Oldham et al.   PEDIATRIC NEUROLOGY

Fabry disease

(2009) Raphael Schiffmann   PHARMACOLOGY & THERAPEUTICS

Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion

(2009) T. Scarabino et al.   Radiologia Medica

Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)

(2008) Eva Simon et al.   Health and Quality of Life Outcomes

Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency

(2008) Ogee Mer Panlaqui et al.   INTENSIVE CARE MEDICINE

Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study

(2008) D. Elstein et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report

(2008) N. Vatanavicharn et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult

(2008) T. Birnbaum et al.   JOURNAL OF NEUROLOGY

Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman

(2008) J M Michot et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Early-onset dementia with prolonged occipital seizures: An atypical case of Kufs disease

(2008) A. Zini et al.   NEUROLOGY

Polymorphisms in catechol-O-methyltransferase and methylenetetrahydrofolate reductase in relation to the risk of schizophrenia

(2007) Jan-Willem Muntjewerff et al.   EUROPEAN NEUROPSYCHOPHARMACOLOGY

The emergence of depression in adolescence: Development of the prefrontal cortex and the representation of reward

(2007) Christopher G. Davey et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS