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。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)
Tetrabenazine for the Treatment of Hyperkinetic Movement Disorders: A Review of the Literature
Jack J. Chen et al.
CLINICAL THERAPEUTICS (2012)
Valproate-induced hyperammonemic encephalopathy: an update on risk factors, clinical correlates and management
Amit Chopra et al.
GENERAL HOSPITAL PSYCHIATRY (2012)
A Case of Adult-onset Adrenoleukodystrophy with Frontal Lobe Dysfunction: A Novel Point Mutation in the ABCD1 Gene
Shinichiro Inoue et al.
INTERNAL MEDICINE (2012)
Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues
Wendy Packman et al.
JOURNAL OF GENETIC COUNSELING (2012)
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)
Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice
Sarah N. R. Pressey et al.
NEUROBIOLOGY OF DISEASE (2012)
Investigating anxiety and depressive-like phenotypes in genetic mouse models of serotonin depletion
Sebastian P. Fernandez et al.
NEUROPHARMACOLOGY (2012)
Acute Intermittent Porphyria Presenting Solely with Psychosis: A Case Report and Discussion
Bharat Kumar
PSYCHOSOMATICS (2012)
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)
Misdiagnosed Postpartum Psychosis Revealing a Late-Onset Urea Cycle Disorder
Thomas Fassier et al.
AMERICAN JOURNAL OF PSYCHIATRY (2011)
Meta-analysis of MTHFR gene variants in schizophrenia, bipolar disorder and unipolar depressive disorder: Evidence for a common genetic vulnerability?
Odette L. J. Peerbooms et al.
BRAIN BEHAVIOR AND IMMUNITY (2011)
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency
M. Kornfeld
CLINICAL NEUROPATHOLOGY (2011)
Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis
D. Wallon et al.
CLINICAL NEUROPATHOLOGY (2011)
γ-Hydroxybutyric acid-induced psychosis and seizures
Annachiara Cagnin et al.
EPILEPSY & BEHAVIOR (2011)
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)
Brain MRI findings in patients with Fabry disease
Ricardo C. Reisin et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)
Clinical experience and laboratory investigations in patients with anti-NMDAR encephalitis
Josep Dalmau et al.
LANCET NEUROLOGY (2011)
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)
Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit
Maria J. Gonzalez et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Movement Disorders in Adult Surviving Patients with Maple Syrup Urine Disease
Miryam Carecchio et al.
MOVEMENT DISORDERS (2011)
Headache and neuropsychic disorders in the puerperium: a case report with suspected deficiency of urea cycle enzymes
Maria Clara Tonini et al.
NEUROLOGICAL SCIENCES (2011)
Dysconnectivity in schizophrenia: Where are we now?
William Pettersson-Yeo et al.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2011)
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)
Fabry's Disease and Psychosis: Causality or Coincidence?
S. Gairing et al.
PSYCHOPATHOLOGY (2011)
Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations
Chiung-Chih Chang et al.
BMC NEUROLOGY (2010)
Neurocognitive Profile in a Case of Maple Syrup Urine Disease
Karin S. Walsh et al.
CLINICAL NEUROPSYCHOLOGIST (2010)
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)
Childhood Psychiatric Disorders as Anomalies in Neurodevelopmental Trajectories
Philip Shaw et al.
HUMAN BRAIN MAPPING (2010)
Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study
Perri Segal et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis
S. Guerrera et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)
Cellular and Synaptic Mechanisms of Anti-NMDA Receptor Encephalitis
Ethan G. Hughes et al.
JOURNAL OF NEUROSCIENCE (2010)
Brain imaging in urea cycle disorders
Andrea Gropman
MOLECULAR GENETICS AND METABOLISM (2010)
Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses
M. J. de Groot et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Classical maple syrup urine disease and brain development: Principles of management and formula design
Kevin A. Strauss et al.
MOLECULAR GENETICS AND METABOLISM (2010)
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
Desiree A. White et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Disruption of prefrontal function and connectivity in individuals with phenylketonuria
Shawn E. Christ et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Beyond executive function: Non-executive cognitive abilities in individuals with PKU
Darren Janzen et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU)
Barbara K. Burton et al.
MOLECULAR GENETICS AND METABOLISM (2010)
White matter pathology in phenylketonuria
Peter J. Anderson et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Psychosocial aspects of PKU: Hidden disabilities - A review
J. K. Gentile et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Executive function in early-treated phenylketonuria: Profile and underlying mechanisms
Shawn E. Christ et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Psychiatric symptoms and disorders in phenylketonuria
V. L. Brumm et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Cerebrotendinous Xanthomatosis Patients With and Without Parkinsonism: Clinical Characteristics and Neuroimaging Findings
Chen-San Su et al.
MOVEMENT DISORDERS (2010)
White and gray matter alterations in adults with Niemann-Pick disease type C A cross-sectional study
M. Walterfang et al.
NEUROLOGY (2010)
Normal Development of Brain Circuits
Gregory Z. Tau et al.
NEUROPSYCHOPHARMACOLOGY (2010)
Diffusion Tensor Imaging in Arginase Deficiency Reveals Damage to Corticospinal Tracts
Michael S. Oldham et al.
PEDIATRIC NEUROLOGY (2010)
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
Ronise M. Santiago et al.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY (2010)
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)
Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease
William J. Zinnanti et al.
BRAIN (2009)
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis
P. C. G. Nijssen et al.
CLINICAL NEUROPHYSIOLOGY (2009)
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male
Sabine Sandu et al.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY (2009)
Neurometabolic disorders
Jean-Marie Saudubray
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
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)
Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?
F. J. van Spronsen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
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)
Gabapentin-Induced Delirium and Dependence
Stefan P. Kruszewse et al.
JOURNAL OF PSYCHIATRIC PRACTICE (2009)
Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis
Marieke Hoeksma et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria
Renzo Manara et al.
NEURORADIOLOGY (2009)
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)
Polymorphisms in catechol-O-methyltransferase and methylenetetrahydrofolate reductase in relation to the risk of schizophrenia
Jan-Willem Muntjewerff et al.
EUROPEAN NEUROPSYCHOPHARMACOLOGY (2008)
Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)
Eva Simon et al.
HEALTH AND QUALITY OF LIFE OUTCOMES (2008)
Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency
Ogee Mer Panlaqui et al.
INTENSIVE CARE MEDICINE (2008)
Neurocognitive testing in late-onset Tay-Sachs disease: A pilot study
D. Elstein et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
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)
Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult
Tobias Birnbaum et al.
JOURNAL OF NEUROLOGY (2008)
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)
Early-onset dementia with prolonged occipital seizures An atypical case of Kufs disease
A. Zini et al.
NEUROLOGY (2008)
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)
Fatal initial adult-onset presentation of urea cycle defect
Jamie Lien et al.
ARCHIVES OF NEUROLOGY (2007)
Neurological implications of urea cycle disorders
A. L. Gropman et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Depression in adults with Fabry disease: A common and under-diagnosed problem
A. L. Cole et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults
F. Sedel et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
The neuropsychiatry of adrenomyeloneuropathy
Mark A. Walterfang et al.
CNS SPECTRUMS (2007)
Frontotemporal dementia in metachromatic leukodystrophy
R. Kozian et al.
FORTSCHRITTE DER NEUROLOGIE PSYCHIATRIE (2007)
Neurology of Fabry disease
M. Low et al.
INTERNAL MEDICINE JOURNAL (2007)
Myelin staining of deep white matter in the dorsolateral prefrontal cortex in schizophrenia, bipolar disorder, and unipolar major depression
William T. Regenold et al.
PSYCHIATRY RESEARCH (2007)
Psychosis in a patient with Fabry's disease and treatment with aripiprazole
Yu-Chih Shen et al.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY (2007)
Risk factors for schizophrenia - All roads lead to dopamine
Marta Di Forti et al.
EUROPEAN NEUROPSYCHOPHARMACOLOGY (2007)
Social outcome in adults with maple syrup urine disease (MSUD)
E. Simon et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Mood is indirectly related to serotonin, norepinephrine and dopamine levels in humans: A meta-analysis of monoamine depletion studies
H. G. Ruhe et al.
MOLECULAR PSYCHIATRY (2007)
Late-onset metachromatic leukodystrophy - Genotype strongly influences phenotype
H. Rauschka et al.
NEUROLOGY (2006)
Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old
G. Eather et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2006)
The neuropsychiatry of Niemann-Pick type C disease in adulthood
Mark Walterfang et al.
JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES (2006)
Homocysteine, methylenetetrahydrofolate reductase and risk of schizophrenia: a meta-analysis
JW Muntjewerff et al.
MOLECULAR PSYCHIATRY (2006)
Neuropsychometric outcome predictors for adults with maple syrup urine disease
C le Roux et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD
B Hoffmann et al.
PEDIATRIC RESEARCH (2006)
Neuropathological, neurogenetic and neuroimaging evidence for white matter pathology in schizophrenia
Mark Walterfang et al.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2006)
Mechanisms of ammonia-induced astrocyte swelling
MD Norenberg et al.
METABOLIC BRAIN DISEASE (2005)
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype
L Guyant-Maréchal et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Psychiatric symptoms in alpha-mannosidosis
D Malm et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2005)
Morphological alterations and cell death provoked by the branched-chain α-amino acids accumulating in maple syrup urine disease in astrocytes from rat cerebral cortex
C Funchal et al.
CELLULAR AND MOLECULAR NEUROBIOLOGY (2005)
Lifetime prevalence and age-of-onset distributions' of DSM-IV disorders in the national comorbidity survey replication
RC Kessler et al.
ARCHIVES OF GENERAL PSYCHIATRY (2005)
The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis
LC Frey et al.
ARCHIVES OF NEUROLOGY (2005)
Bipolar disorder and Niemann-Pick disease type C
D Sullivan et al.
AMERICAN JOURNAL OF PSYCHIATRY (2005)
Postpartum psychosis in mild argininosuccinate synthetase deficiency
GM Enns et al.
OBSTETRICS AND GYNECOLOGY (2005)
Unusual course of α-mannosidosis with symptoms of paranoid-hallucinatory psychosis
U Seidl et al.
NERVENARZT (2005)
Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients
O Neudorfer et al.
GENETICS IN MEDICINE (2005)
Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis
ML Backman et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2005)
Homocysteinemia as well as methylenetetrahydrofolate reductase polymorphism are associated with affective psychoses
A Reif et al.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY (2005)
Diseases of white matter and schizophrenia-like psychosis
M Walterfang et al.
AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY (2005)
Urea cycle defects: Management and outcome
M Nassogne et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Psychiatric findings in four female carriers of Fabry disease
J Sadek et al.
PSYCHIATRIC GENETICS (2004)
Neuropsychological assessment of patients with late onset GM2 gangliosidosis
CM Zaroff et al.
NEUROLOGY (2004)
Adult α-mannosidosis -: Clinical progression in the absence of demyelination
A Gutschalk et al.
NEUROLOGY (2004)
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)
Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease
S Schönberger et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Hyperammonaemia as a cause of psychosis in an adolescent
A Bélanger-Quintana et al.
EUROPEAN JOURNAL OF PEDIATRICS (2003)
Relationship between myelin production and dopamine synthesis in the PKU mouse brain
B Joseph et al.
JOURNAL OF NEUROCHEMISTRY (2003)
Metachromatic leukodystrophy: A model for the study of psychosis
DN Black et al.
JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES (2003)
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation
W Jan et al.
NEURORADIOLOGY (2003)
Genetics and genomics of behavioral and psychiatric disorders
K Inoue et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2003)
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)
Mapping cortical change across the human life span
ER Sowell et al.
NATURE NEUROSCIENCE (2003)
Neuroleptic malignant syndrome in Kufs' disease
A Reif et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2003)
White matter structural integrity in healthy aging adults and patients with Alzheimer disease - A magnetic resonance imaging study
G Bartzokis et al.
ARCHIVES OF NEUROLOGY (2003)
Trafficking of cholesterol from cell bodies to distal axons in Niemann pick C1-deficient neurons
B Karten et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma
R Gaspari et al.
ANNALS OF EMERGENCY MEDICINE (2003)
Neuroleptic malignant syndrome in juvenile neuronal ceroid lipofuscinosis associated with low-dose risperidone therapy
L Vercammen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2003)
Homocystinuria presenting as psychosis in an adolescent
MM Ryan et al.
JOURNAL OF CHILD NEUROLOGY (2002)
Phenylketonuria in adulthood: A collaborative study
R Koch et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2002)
How practical are recommendations for dietary control in phenylketonuria?
JH Walter et al.
LANCET (2002)
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)
Cerebrotendinous xanthomatosis - A rare disease with diverse manifestations
MH Moghadasian et al.
ARCHIVES OF NEUROLOGY (2002)
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)
Neurodegeneration in the Niemann-Pick C mouse: Glial involvement
DC German et al.
NEUROSCIENCE (2002)
Late diagnosis of ornithine transcarbamylase defect in three related female patients: Polymorphic presentations
A Legras et al.
CRITICAL CARE MEDICINE (2002)
Frontal lobe and cognitive development
JM Fuster
JOURNAL OF NEUROCYTOLOGY (2002)
Neurodegeneration in Niemann-Pick type C disease mice
WY Ong et al.
EXPERIMENTAL BRAIN RESEARCH (2001)
Histopathology, electrodiagnostic testing, and magnetic resonance imaging show significant peripheral and central nervous system myelin abnormalities in the cat model of alpha-mannosidosis
CH Vite et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2001)
Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis
N De Stefano et al.
BRAIN (2001)
Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations
M Zervas et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2001)
Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus
MD Bogdanovic et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2000)
Schizophrenia as a disorder of developmentally reduced synaptic connectivity
TH McGlashan et al.
ARCHIVES OF GENERAL PSYCHIATRY (2000)
The adolescent brain and age-related behavioral manifestations
LP Spear
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2000)
Kufs' disease - a rare cause of early onset dementia
R Schreiner et al.
NERVENARZT (2000)
Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release:: Implications for neurological impairment associated with maple syrup urine disease
P Jouvet et al.
MOLECULAR BIOLOGY OF THE CELL (2000)
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria
S Puglisi-Allegra et al.
NEUROREPORT (2000)
MRI in neuronal ceroid lipofuscinosis
L D'Incerti
NEUROLOGICAL SCIENCES (2000)