4.4 Article Proceedings Paper

The neuropsychiatry of inborn errors of metabolism

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Biochemistry & Molecular Biology

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

Bwee Tien Poll-The et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)

Review Pharmacology & Pharmacy

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

Jack J. Chen et al.

CLINICAL THERAPEUTICS (2012)

Article Genetics & Heredity

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

Wendy Packman et al.

JOURNAL OF GENETIC COUNSELING (2012)

Article Endocrinology & Metabolism

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

Chiara Cazzorla et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Article Clinical Neurology

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

M. Walterfang et al.

AMERICAN JOURNAL OF NEURORADIOLOGY (2011)

Editorial Material Psychiatry

Misdiagnosed Postpartum Psychosis Revealing a Late-Onset Urea Cycle Disorder

Thomas Fassier et al.

AMERICAN JOURNAL OF PSYCHIATRY (2011)

Article Clinical Neurology

Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency

M. Kornfeld

CLINICAL NEUROPATHOLOGY (2011)

Article Behavioral Sciences

γ-Hydroxybutyric acid-induced psychosis and seizures

Annachiara Cagnin et al.

EPILEPSY & BEHAVIOR (2011)

Article Biochemistry & Molecular Biology

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

Kyunghee Byun et al.

JOURNAL OF CHEMICAL NEUROANATOMY (2011)

Article Clinical Neurology

Brain MRI findings in patients with Fabry disease

Ricardo C. Reisin et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)

Article Endocrinology & Metabolism

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

Machtelt G. Bouwman et al.

MOLECULAR GENETICS AND METABOLISM (2011)

Article Endocrinology & Metabolism

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

Maria J. Gonzalez et al.

MOLECULAR GENETICS AND METABOLISM (2011)

Article Clinical Neurology

Movement Disorders in Adult Surviving Patients with Maple Syrup Urine Disease

Miryam Carecchio et al.

MOVEMENT DISORDERS (2011)

Review Behavioral Sciences

Dysconnectivity in schizophrenia: Where are we now?

William Pettersson-Yeo et al.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2011)

Review Behavioral Sciences

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

Heather C. Brenhouse et al.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2011)

Article Psychiatry

Fabry's Disease and Psychosis: Causality or Coincidence?

S. Gairing et al.

PSYCHOPATHOLOGY (2011)

Article Psychology, Clinical

Neurocognitive Profile in a Case of Maple Syrup Urine Disease

Karin S. Walsh et al.

CLINICAL NEUROPSYCHOLOGIST (2010)

Article Pediatrics

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

John V Campo et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)

Article Neurosciences

Childhood Psychiatric Disorders as Anomalies in Neurodevelopmental Trajectories

Philip Shaw et al.

HUMAN BRAIN MAPPING (2010)

Article Endocrinology & Metabolism

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

Perri Segal et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

Article Clinical Neurology

Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis

S. Guerrera et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)

Article Neurosciences

Cellular and Synaptic Mechanisms of Anti-NMDA Receptor Encephalitis

Ethan G. Hughes et al.

JOURNAL OF NEUROSCIENCE (2010)

Article Endocrinology & Metabolism

Brain imaging in urea cycle disorders

Andrea Gropman

MOLECULAR GENETICS AND METABOLISM (2010)

Review Endocrinology & Metabolism

Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses

M. J. de Groot et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Article Endocrinology & Metabolism

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

Kevin A. Strauss et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Article Endocrinology & Metabolism

Disruption of prefrontal function and connectivity in individuals with phenylketonuria

Shawn E. Christ et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Article Endocrinology & Metabolism

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

Darren Janzen et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Article Endocrinology & Metabolism

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

Barbara K. Burton et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Article Endocrinology & Metabolism

White matter pathology in phenylketonuria

Peter J. Anderson et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Article Endocrinology & Metabolism

Psychosocial aspects of PKU: Hidden disabilities - A review

J. K. Gentile et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Review Endocrinology & Metabolism

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

Shawn E. Christ et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Article Endocrinology & Metabolism

Psychiatric symptoms and disorders in phenylketonuria

V. L. Brumm et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Review Neurosciences

Normal Development of Brain Circuits

Gregory Z. Tau et al.

NEUROPSYCHOPHARMACOLOGY (2010)

Article Clinical Neurology

Diffusion Tensor Imaging in Arginase Deficiency Reveals Damage to Corticospinal Tracts

Michael S. Oldham et al.

PEDIATRIC NEUROLOGY (2010)

Article Medical Laboratory Technology

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

Vanessa R. Thurlow et al.

ANNALS OF CLINICAL BIOCHEMISTRY (2010)

Article Clinical Neurology

Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis

P. C. G. Nijssen et al.

CLINICAL NEUROPHYSIOLOGY (2009)

Review Behavioral Sciences

Alcohol withdrawal seizures

John R. Hughes

EPILEPSY & BEHAVIOR (2009)

Article Psychology, Developmental

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

Sabine Sandu et al.

EUROPEAN CHILD & ADOLESCENT PSYCHIATRY (2009)

Editorial Material Endocrinology & Metabolism

Neurometabolic disorders

Jean-Marie Saudubray

JOURNAL OF INHERITED METABOLIC DISEASE (2009)

Article Endocrinology & Metabolism

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

M. Walterfang et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2009)

Article Endocrinology & Metabolism

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

F. J. van Spronsen et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2009)

Article Genetics & Heredity

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

A. Mehta et al.

JOURNAL OF MEDICAL GENETICS (2009)

Editorial Material Psychiatry

Gabapentin-Induced Delirium and Dependence

Stefan P. Kruszewse et al.

JOURNAL OF PSYCHIATRIC PRACTICE (2009)

Article Endocrinology & Metabolism

Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis

Marieke Hoeksma et al.

MOLECULAR GENETICS AND METABOLISM (2009)

Article Clinical Neurology

Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria

Renzo Manara et al.

NEURORADIOLOGY (2009)

Review Pharmacology & Pharmacy

Fabry disease

Raphael Schiffmann

PHARMACOLOGY & THERAPEUTICS (2009)

Article Radiology, Nuclear Medicine & Medical Imaging

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

T. Scarabino et al.

RADIOLOGIA MEDICA (2009)

Article Clinical Neurology

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

Jan-Willem Muntjewerff et al.

EUROPEAN NEUROPSYCHOPHARMACOLOGY (2008)

Article Critical Care Medicine

Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency

Ogee Mer Panlaqui et al.

INTENSIVE CARE MEDICINE (2008)

Article Endocrinology & Metabolism

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

D. Elstein et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2008)

Article Endocrinology & Metabolism

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

N. Vatanavicharn et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2008)

Letter Clinical Neurology

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

J. M. Michot et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)

Review Behavioral Sciences

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

Christopher G. Davey et al.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2008)

Article Clinical Neurology

Fatal initial adult-onset presentation of urea cycle defect

Jamie Lien et al.

ARCHIVES OF NEUROLOGY (2007)

Review Endocrinology & Metabolism

Neurological implications of urea cycle disorders

A. L. Gropman et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2007)

Article Endocrinology & Metabolism

Depression in adults with Fabry disease: A common and under-diagnosed problem

A. L. Cole et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2007)

Review Endocrinology & Metabolism

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

F. Sedel et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2007)

Article Clinical Neurology

The neuropsychiatry of adrenomyeloneuropathy

Mark A. Walterfang et al.

CNS SPECTRUMS (2007)

Article Clinical Neurology

Frontotemporal dementia in metachromatic leukodystrophy

R. Kozian et al.

FORTSCHRITTE DER NEUROLOGIE PSYCHIATRIE (2007)

Article Medicine, General & Internal

Neurology of Fabry disease

M. Low et al.

INTERNAL MEDICINE JOURNAL (2007)

Letter Clinical Neurology

Psychosis in a patient with Fabry's disease and treatment with aripiprazole

Yu-Chih Shen et al.

PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY (2007)

Article Clinical Neurology

Risk factors for schizophrenia - All roads lead to dopamine

Marta Di Forti et al.

EUROPEAN NEUROPSYCHOPHARMACOLOGY (2007)

Editorial Material Endocrinology & Metabolism

Social outcome in adults with maple syrup urine disease (MSUD)

E. Simon et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2007)

Article Clinical Neurology

Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old

G. Eather et al.

JOURNAL OF CLINICAL NEUROSCIENCE (2006)

Article Clinical Neurology

The neuropsychiatry of Niemann-Pick type C disease in adulthood

Mark Walterfang et al.

JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES (2006)

Article Biochemistry & Molecular Biology

Homocysteine, methylenetetrahydrofolate reductase and risk of schizophrenia: a meta-analysis

JW Muntjewerff et al.

MOLECULAR PSYCHIATRY (2006)

Article Endocrinology & Metabolism

Neuropsychometric outcome predictors for adults with maple syrup urine disease

C le Roux et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2006)

Review Neurosciences

Van Gogh's madness

FC Rose

NEUROBIOLOGY OF PAINTING (2006)

Review Behavioral Sciences

Neuropathological, neurogenetic and neuroimaging evidence for white matter pathology in schizophrenia

Mark Walterfang et al.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2006)

Article Endocrinology & Metabolism

Mechanisms of ammonia-induced astrocyte swelling

MD Norenberg et al.

METABOLIC BRAIN DISEASE (2005)

Article Genetics & Heredity

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype

L Guyant-Maréchal et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Education, Special

Psychiatric symptoms in alpha-mannosidosis

D Malm et al.

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2005)

Article Clinical Neurology

The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis

LC Frey et al.

ARCHIVES OF NEUROLOGY (2005)

Letter Psychiatry

Bipolar disorder and Niemann-Pick disease type C

D Sullivan et al.

AMERICAN JOURNAL OF PSYCHIATRY (2005)

Article Obstetrics & Gynecology

Postpartum psychosis in mild argininosuccinate synthetase deficiency

GM Enns et al.

OBSTETRICS AND GYNECOLOGY (2005)

Article Education, Special

Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis

ML Backman et al.

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2005)

Review Clinical Neurology

Homocysteinemia as well as methylenetetrahydrofolate reductase polymorphism are associated with affective psychoses

A Reif et al.

PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY (2005)

Review Psychiatry

Diseases of white matter and schizophrenia-like psychosis

M Walterfang et al.

AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY (2005)

Article Endocrinology & Metabolism

Urea cycle defects: Management and outcome

M Nassogne et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2005)

Article Genetics & Heredity

Psychiatric findings in four female carriers of Fabry disease

J Sadek et al.

PSYCHIATRIC GENETICS (2004)

Article Multidisciplinary Sciences

Dynamic mapping of human cortical development during childhood through early adulthood

N Gogtay et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)

Article Endocrinology & Metabolism

Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease

S Schönberger et al.

MOLECULAR GENETICS AND METABOLISM (2004)

Article Pediatrics

Hyperammonaemia as a cause of psychosis in an adolescent

A Bélanger-Quintana et al.

EUROPEAN JOURNAL OF PEDIATRICS (2003)

Article Biochemistry & Molecular Biology

Relationship between myelin production and dopamine synthesis in the PKU mouse brain

B Joseph et al.

JOURNAL OF NEUROCHEMISTRY (2003)

Article Clinical Neurology

Metachromatic leukodystrophy: A model for the study of psychosis

DN Black et al.

JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES (2003)

Article Cell Biology

Genetics and genomics of behavioral and psychiatric disorders

K Inoue et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2003)

Review Genetics & Heredity

Famous people and genetic disorders: From monarchs to geniuses - A portrait of their genetic illnesses

NC Ho et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)

Article Neurosciences

Mapping cortical change across the human life span

ER Sowell et al.

NATURE NEUROSCIENCE (2003)

Article Clinical Neurology

Neuroleptic malignant syndrome in Kufs' disease

A Reif et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2003)

Article Biochemistry & Molecular Biology

Trafficking of cholesterol from cell bodies to distal axons in Niemann pick C1-deficient neurons

B Karten et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Endocrinology & Metabolism

Neuroleptic malignant syndrome in juvenile neuronal ceroid lipofuscinosis associated with low-dose risperidone therapy

L Vercammen et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2003)

Article Clinical Neurology

Homocystinuria presenting as psychosis in an adolescent

MM Ryan et al.

JOURNAL OF CHILD NEUROLOGY (2002)

Article Endocrinology & Metabolism

Phenylketonuria in adulthood: A collaborative study

R Koch et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2002)

Article Medicine, General & Internal

How practical are recommendations for dietary control in phenylketonuria?

JH Walter et al.

LANCET (2002)

Article Radiology, Nuclear Medicine & Medical Imaging

Comparison of brain perfusion SPECT and MRI findings in children with neuronal ceroid-lipofuscinosis and in their families

E Sayit et al.

ANNALS OF NUCLEAR MEDICINE (2002)

Article Clinical Neurology

Cerebrotendinous xanthomatosis - A rare disease with diverse manifestations

MH Moghadasian et al.

ARCHIVES OF NEUROLOGY (2002)

Article Clinical Neurology

Development of cortical and subcortical brain structures in childhood and adolescence: a structural MRI study

ER Sowell et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2002)

Article Neurosciences

Neurodegeneration in the Niemann-Pick C mouse: Glial involvement

DC German et al.

NEUROSCIENCE (2002)

Article Cell Biology

Frontal lobe and cognitive development

JM Fuster

JOURNAL OF NEUROCYTOLOGY (2002)

Article Neurosciences

Neurodegeneration in Niemann-Pick type C disease mice

WY Ong et al.

EXPERIMENTAL BRAIN RESEARCH (2001)

Article Clinical Neurology

Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus

MD Bogdanovic et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2000)

Article Psychiatry

Schizophrenia as a disorder of developmentally reduced synaptic connectivity

TH McGlashan et al.

ARCHIVES OF GENERAL PSYCHIATRY (2000)

Review Behavioral Sciences

The adolescent brain and age-related behavioral manifestations

LP Spear

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2000)

Article Clinical Neurology

Kufs' disease - a rare cause of early onset dementia

R Schreiner et al.

NERVENARZT (2000)

Article Neurosciences

Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria

S Puglisi-Allegra et al.

NEUROREPORT (2000)

Article Clinical Neurology

MRI in neuronal ceroid lipofuscinosis

L D'Incerti

NEUROLOGICAL SCIENCES (2000)