| P50 | author | Mark Walterfang | Q40417764 |
| | Olivier Bonnot | Q42871472 |
| P2093 | author name string | Dennis Velakoulis | |
| | Ramon Mocellin | |
| P2860 | cites work | Lifetime Prevalence and Age-of-Onset Distributions of DSM-IV Disorders in the National Comorbidity Survey Replication | Q22253034 |
| | Dynamic mapping of human cortical development during childhood through early adulthood | Q24562444 |
| | Normal development of brain circuits | Q24602936 |
| | Clinical experience and laboratory investigations in patients with anti-NMDAR encephalitis | Q24614608 |
| | Cellular and synaptic mechanisms of anti-NMDA receptor encephalitis | Q24620536 |
| | Brain imaging in urea cycle disorders | Q27687833 |
| | Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations | Q28213593 |
| | Clinical and biochemical effects of catecholamine depletion on antidepressant-induced remission of depression | Q28278650 |
| | Neurotoxicity of delta-aminolevulinic acid and porphobilinogen | Q28328625 |
| | Cerebrotendinous Xanthomatosis | Q29307222 |
| | The adolescent brain and age-related behavioral manifestations | Q29618654 |
| | Psychotropic drugs in acute intermittent porphyria | Q30304316 |
| | Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis | Q48794226 |
| | Headache and neuropsychic disorders in the puerperium: a case report with suspected deficiency of urea cycle enzymes | Q48876269 |
| | Morphologic and histoanatomic observations of the brain in untreated human phenylketonuria | Q49037930 |
| | Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients | Q49044946 |
| | Deficits in selective and sustained attention processes in early treated children with phenylketonuria--result of impaired frontal lobe functions? | Q49069537 |
| | Neurology of Fabry disease | Q50457274 |
| | Psychiatric symptoms in alpha-mannosidosis. | Q50470114 |
| | Social-adaptive and psychological functioning of patients affected by Fabry disease. | Q50710929 |
| | Type C Niemann-Pick disease: supranuclear ophthalmoplegia associated with deficient biosynthesis of cholesterol esters | Q50874653 |
| | Psychiatric findings in four female carriers of Fabry disease. | Q50985818 |
| | Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study. | Q51050227 |
| | Brain lipids, proteolipids, and free amino acids in maple syrup urine disease | Q51229601 |
| | Fabry's disease and psychosis: causality or coincidence? | Q51491526 |
| | Postoperative psychosis in homocystinuria. | Q51550233 |
| | Neurocognitive profile in a case of maple syrup urine disease. | Q51579447 |
| | Depression in adults with Fabry disease: a common and under-diagnosed problem. | Q51728588 |
| | The neuropsychiatry of adrenomyeloneuropathy. | Q51899730 |
| | Polymorphisms in catechol-O-methyltransferase and methylenetetrahydrofolate reductase in relation to the risk of schizophrenia. | Q51900183 |
| | Acute intermittent porphyria: psychosis as the only clinical manifestation. | Q51913684 |
| | Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. | Q51924310 |
| | Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis. | Q51934243 |
| | Homocystinuria and psychiatric disorder: a case report. | Q51981248 |
| | Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C. | Q51996255 |
| | Neuropsychological assessment of patients with late onset GM2 gangliosidosis. | Q51999762 |
| | Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study. | Q52018296 |
| | Varied psychiatric manifestations of acute intermittent porphyria. | Q52021618 |
| | Psychiatric features of adult GM2 gangliosidosis. | Q52064552 |
| | CT and MRI in late-onset metachromatic leukodystrophy. | Q52076369 |
| | Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse. | Q52204100 |
| | Intellectual outcome in children with maple syrup urine disease. | Q52236268 |
| | Famous people and genetic disorders: from monarchs to geniuses--a portrait of their genetic illnesses. | Q52374472 |
| | Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. | Q55051583 |
| | Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C. | Q55052069 |
| | Behavior disturbance in 8-year-old children with early treated phenylketonuria | Q56609578 |
| | The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood | Q57839308 |
| | Fabry disease | Q59383523 |
| | Bipolar Disorder and Niemann-Pick Disease Type C | Q60629716 |
| | Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria | Q64004915 |
| | MR findings in mannosidosis | Q68677606 |
| | [Dementia and psychiatric disorders in Kufs disease] | Q68684516 |
| | Hexosaminidase A deficiency in adults | Q69994018 |
| | Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria | Q70006687 |
| | Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging | Q70177662 |
| | Cognitive impairment in adult-onset adrenoleukodystrophy | Q70279637 |
| | Brain imaging in late-onset GM2 gangliosidosis | Q70514592 |
| | Neuropsychiatric aspects of adult-onset Tay-Sachs disease: two case reports with several new findings | Q70548529 |
| | Intellectual performance of children with maple syrup urine disease | Q70587647 |
| | Astrocyte leucine metabolism: significance of branched-chain amino acid transamination | Q70790707 |
| | Adrenoleukodystrophy: early frontal lobe involvement on computed tomography | Q71251555 |
| | MR in adrenoleukodystrophy: atypical presentation as bilateral frontal demyelination | Q71877674 |
| | Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change | Q71962264 |
| | Case 1, 1995: psychosis, dementia, chorea, ataxia, and supranuclear gaze dysfunction | Q72000156 |
| | Myelination in the developing human brain: biochemical correlates | Q72356796 |
| | Characteristics of the dementia in late-onset metachromatic leukodystrophy | Q72379351 |
| | Personality disorder in young women with treated phenylketonuria | Q72476137 |
| | Clinical and genetic variations in the syndrome of adult GM2 gangliodosis resulting from hexosaminidase a deficiency | Q72821473 |
| | Integrity of the mesocortical dopaminergic system is necessary for complete expression of in vivo hippocampal-prefrontal cortex long-term potentiation | Q73333020 |
| | Neuroleptic malignant syndrome with gangliosidosis type II | Q73388247 |
| | Adult psychosocial outcome in early-treated phenylketonuria | Q73614063 |
| | Methylenetetrahydrofolate reductase variant and schizophrenia/depression | Q73815804 |
| | Homozygous thermolabile methylenetetrahydrofolate reductase in schizophrenia-like psychosis | Q74126333 |
| | Histopathology, electrodiagnostic testing, and magnetic resonance imaging show significant peripheral and central nervous system myelin abnormalities in the cat model of alpha-mannosidosis | Q74315029 |
| | C677T polymorphism in methylenetetrahydrofolate reductase gene and psychoses | Q77419847 |
| | Recurrent psychotic depression associated with GM2 gangliosidosis | Q77422965 |
| | Neurodegeneration in the Niemann-Pick C mouse: glial involvement | Q77583344 |
| | The neuropsychology of Kuf's Disease: a case of atypical early onset dementia | Q79232335 |
| | Psychosis in a patient with Fabry's disease and treatment with aripiprazole | Q79450662 |
| | [Frontotemporal dementia in metachromatic leukodystrophy] | Q80473617 |
| | Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report | Q80526756 |
| | [Unusual course of alpha-mannosidosis with symptoms of paranoid-hallucinatory psychosis] | Q81505079 |
| | Neuropsychometric outcome predictors for adults with maple syrup urine disease | Q83120640 |
| | Brain MRI findings in patients with Fabry disease | Q83779049 |
| | γ-Hydroxybutyric acid-induced psychosis and seizures | Q84002231 |
| | Misdiagnosed postpartum psychosis revealing a late-onset urea cycle disorder | Q84277614 |
| | Movement disorders in adult surviving patients with maple syrup urine disease | Q30598900 |
| | MRI in neuronal ceroid lipofuscinosis | Q30619659 |
| | MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation | Q30791899 |
| | Metachromatic leukodystrophy: a model for the study of psychosis | Q30819480 |
| | Kufs-disease; a rare cause of early-onset dementia | Q30877597 |
| | Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease | Q30925488 |
| | Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations. | Q30985362 |
| | Neuropathological, neurogenetic and neuroimaging evidence for white matter pathology in schizophrenia | Q31035609 |
| | Neurological implications of urea cycle disorders | Q31137640 |
| | Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing. | Q31141682 |
| | Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis | Q31775569 |
| | Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations | Q32001512 |
| | Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings | Q33527058 |
| | White matter pathology in phenylketonuria | Q33528365 |
| | Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature | Q33607709 |
| | The neuropsychiatry of adult-onset adrenoleukodystrophy | Q33706790 |
| | The little imitator--porphyria: a neuropsychiatric disorder | Q33735657 |
| | Developmental trajectories during adolescence in males and females: a cross-species understanding of underlying brain changes | Q33907518 |
| | Schizophrenia as a disorder of developmentally reduced synaptic connectivity | Q33965926 |
| | Homocysteine, methylenetetrahydrofolate reductase and risk of schizophrenia: a meta-analysis | Q33990192 |
| | Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults | Q34005690 |
| | Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis | Q34016007 |
| | Alcohol withdrawal seizures | Q34016338 |
| | Development of layer I neurons in the primate cerebral cortex. | Q34084698 |
| | White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study | Q34116334 |
| | Mapping cortical change across the human life span | Q34172914 |
| | Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables | Q34186279 |
| | Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders | Q34224156 |
| | Recent progress in lysosomal alpha-mannosidase and its deficiency | Q34231650 |
| | Neuronal ceroid lipofuscinoses: classification and diagnosis | Q34238591 |
| | Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues | Q34302254 |
| | Tetrabenazine for the treatment of hyperkinetic movement disorders: a review of the literature. | Q34322974 |
| | Metachromatic leukodystrophy simulating schizophrenia-like psychosis | Q34450570 |
| | Diseases of white matter and schizophrenia-like psychosis | Q34451609 |
| | Klüver-Bucy syndrome as the initial symptom of adult-type ceroid lipofuscinosis (Kufs' disease) | Q34555101 |
| | Mood is indirectly related to serotonin, norepinephrine and dopamine levels in humans: a meta-analysis of monoamine depletion studies | Q34612909 |
| | The emergence of depression in adolescence: development of the prefrontal cortex and the representation of reward | Q34637803 |
| | Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness | Q34691048 |
| | Homocystinuria and schizophrenia. Literature review and case report | Q34694831 |
| | 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 | Q34718654 |
| | Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review | Q34761836 |
| | New developments in the neurobiological basis of anxiety disorders | Q35029943 |
| | Genetics and genomics of behavioral and psychiatric disorders | Q35145888 |
| | Frontal lobe and cognitive development | Q35157901 |
| | Electroconvulsive therapy treatment of depression in a patient with adult GM2 gangliosidosis | Q35346807 |
| | Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus | Q35459911 |
| | Neuroleptic malignant syndrome in Kufs' disease. | Q35472036 |
| | Adult onset Niemann-Pick disease type C presenting with psychosis | Q35472393 |
| | Psychiatric disturbances in metachromatic leukodystrophy. Insights into the neurobiology of psychosis | Q35870284 |
| | Urea cycle defects: management and outcome | Q36114837 |
| | The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis | Q36163188 |
| | Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease | Q36318459 |
| | Mechanisms of ammonia-induced astrocyte swelling | Q36355327 |
| | Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). | Q36579169 |
| | Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings. | Q36714903 |
| | Magnetic resonance imaging of the brain in phenylketonuria | Q36721838 |
| | Risk factors for schizophrenia--all roads lead to dopamine | Q36751054 |
| | Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease | Q36755694 |
| | Glutamate and schizophrenia: phencyclidine, N-methyl-D-aspartate receptors, and dopamine-glutamate interactions | Q36756365 |
| | 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 | Q36806296 |
| | Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice | Q36852911 |
| | Classical maple syrup urine disease and brain development: principles of management and formula design | Q36900927 |
| | Neuropathology of late onset gangliosidoses. A review | Q37048467 |
| | The Clinical Aspects of Adult Hexosaminidase Deficiencies | Q37133745 |
| | Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts | Q37135967 |
| | Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease | Q37158185 |
| | Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause? | Q37384807 |
| | Anderson-Fabry disease: developments in diagnosis and treatment | Q37664194 |
| | Executive function in early-treated phenylketonuria: profile and underlying mechanisms. | Q37685636 |
| | Beyond executive function: non-executive cognitive abilities in individuals with PKU. | Q37685637 |
| | Psychosocial aspects of PKU: hidden disabilities--a review. | Q37685641 |
| | Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. | Q37685646 |
| | Childhood psychiatric disorders as anomalies in neurodevelopmental trajectories | Q37760140 |
| | Dysconnectivity in schizophrenia: where are we now? | Q37813210 |
| | Meta-analysis of MTHFR gene variants in schizophrenia, bipolar disorder and unipolar depressive disorder: evidence for a common genetic vulnerability? | Q37824079 |
| | Neurological complications and behavioral problems in patients with phenylketonuria in a follow-up unit | Q37912800 |
| | Investigating anxiety and depressive-like phenotypes in genetic mouse models of serotonin depletion | Q37938415 |
| | Valproate-induced hyperammonemic encephalopathy: an update on risk factors, clinical correlates and management | Q37981343 |
| | Acute intermittent porphyria presenting solely with psychosis: a case report and discussion. | Q38035572 |
| | Van Gogh's madness | Q38468070 |
| | Adult neuronal ceroid-lipofuscinosis | Q38657803 |
| | Pathobiology of neuronal storage disease. | Q39514474 |
| | Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature | Q39587567 |
| | Kufs' disease: a critical reappraisal | Q39639726 |
| | Myelin staining of deep white matter in the dorsolateral prefrontal cortex in schizophrenia, bipolar disorder, and unipolar major depression | Q39793664 |
| | Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study | Q40072113 |
| | Mannosidosis: Pathology of the Nervous System | Q40092485 |
| | Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family | Q40163380 |
| | δ-Aminolevulinic acid: Influences on synaptic GABA receptor binding may explain CNS symptoms of porphyria | Q40187421 |
| | Depression in a patient with dementia secondary to cerebrotendinous xanthomatosis. | Q40274346 |
| | Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two cases reports and review of the literature | Q40351842 |
| | The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature | Q40372895 |
| | Adrenoleukodystrophy: CT and MRI findings | Q40417175 |
| | Schizophrenia: a disconnection syndrome? | Q40428268 |
| | Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C | Q40482893 |
| | Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity | Q40522145 |
| | Neuroleptic malignant syndrome in juvenile neuronal ceroid lipofuscinosis associated with low‐dose risperidone therapy | Q40546636 |
| | Psychiatric disorders in patients with Fabry's disease | Q40795675 |
| | Pathoarchitectonic pattern of iso- and allocortical lesions in juvenile and adult neuronal ceroid-lipofuscinosis | Q40864981 |
| | Selective neuronal vulnerability in the hippocampus--a role for gene expression? | Q40937325 |
| | Niemann-Pick disease type C. From bench to bedside | Q41034362 |
| | Initiation and growth of ectopic neurites and meganeurites during postnatal cortical development in ganglioside storage disease | Q41193644 |
| | Development of the dopaminergic innervation in the prefrontal cortex of the rat | Q41283858 |
| | Acute porphyrias: pathogenesis of neurological manifestations | Q41727540 |
| | Neuropsychiatric aspects of the adult variant of Tay-Sachs disease | Q41740673 |
| | The ontogeny of excitatory amino acid receptors in rat forebrain--I. N-methyl-D-aspartate and quisqualate receptors | Q41764794 |
| | Drug-induced dystonia in neuronal ceroid-lipofuscinosis | Q42216824 |
| | High prevalence of intermittent acute porphyria in a psychiatric patient population | Q42229784 |
| | Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis | Q42818670 |
| | Adult Niemann-Pick disease type C mimicking features of multiple sclerosis | Q42911632 |
| | Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU). | Q42967340 |
| | 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 | Q43024089 |
| | Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency | Q43091708 |
| | Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria | Q43299002 |
| | Neurodegeneration in Niemann-Pick type C disease mice | Q43802656 |
| | Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations | Q43922412 |
| | How practical are recommendations for dietary control in phenylketonuria? | Q44061671 |
| | Phenylketonuria in adulthood: a collaborative study | Q44199167 |
| | Ammonium-induced impairment of axonal growth is prevented through glial creatine. | Q44213491 |
| | Trafficking of cholesterol from cell bodies to distal axons in Niemann Pick C1-deficient neurons | Q44233699 |
| | Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma. | Q44270453 |
| | Homocystinuria presenting as psychosis in an adolescent | Q44314358 |
| | A survey of porphyria among psychiatric patients | Q44408893 |
| | Relationship between myelin production and dopamine synthesis in the PKU mouse brain | Q44512235 |
| | Hyperammonaemia as a cause of psychosis in an adolescent | Q44564439 |
| | Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency | Q44648397 |
| | The relationship of the metachromatic leukodystrophies to neuropsychiatric disorders | Q44804543 |
| | Subcortical volumetric reductions in adult Niemann-Pick disease type C: a cross-sectional study. | Q44998717 |
| | Adult alpha-mannosidosis: clinical progression in the absence of demyelination | Q45144743 |
| | Kufs' disease: diagnostic difficulties in the examination of extracerebral biopsies. | Q45203085 |
| | Gabapentin-induced delirium and dependence | Q45223381 |
| | Alteration of the CNS pathway to the hippocampus in a mouse model of Niemann-Pick, type C disease | Q45240213 |
| | Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. | Q45901877 |
| | Fatal initial adult-onset presentation of urea cycle defect. | Q46003310 |
| | Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion | Q46092393 |
| | Development of cortical and subcortical brain structures in childhood and adolescence: a structural MRI study | Q46187071 |
| | Early-onset dementia with prolonged occipital seizures: an atypical case of Kufs disease. | Q46241229 |
| | Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult | Q46316883 |
| | Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency. | Q46353794 |
| | White matter structural integrity in healthy aging adults and patients with Alzheimer disease: a magnetic resonance imaging study | Q46388973 |
| | Postpartum "psychosis" in mild argininosuccinate synthetase deficiency | Q46405993 |
| | Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency | Q46466068 |
| | Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis. | Q46615491 |
| | Homocysteinemia as well as methylenetetrahydrofolate reductase polymorphism are associated with affective psychoses. | Q46627680 |
| | Morphological alterations and cell death provoked by the branched-chain alpha-amino acids accumulating in maple syrup urine disease in astrocytes from rat cerebral cortex | Q46679789 |
| | Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman. | Q46690313 |
| | Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. | Q46835000 |
| | Young adults with MSUD and their transition to adulthood: psychosocial issues | Q47244815 |
| | Psychiatric disorders in patients with cerebrotendinous xanthomatosis | Q48104322 |
| | Myelination of a key relay zone in the hippocampal formation occurs in the human brain during childhood, adolescence, and adulthood | Q48109108 |
| | Neuropsychiatric symptoms and brain structural alterations in Fabry disease | Q48124701 |
| | Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister | Q48136377 |
| | Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of an Irish family | Q48150817 |
| | Magnetic resonance imaging in cerebrotendinous xanthomatosis: a prospective clinical and neuroradiological study | Q48159754 |
| | Hypoplasia of the corpus callosum in Niemann-Pick type C disease | Q48210288 |
| | Psychiatric symptoms and disorders in phenylketonuria | Q48225655 |
| | Structural maturation of neural pathways in children and adolescents: in vivo study | Q48260310 |
| | Social outcome in adults with maple syrup urine disease (MSUD). | Q48268538 |
| | Disruption of prefrontal function and connectivity in individuals with phenylketonuria | Q48285722 |
| | Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease | Q48288420 |
| | The neurotoxicity of sulfur-containing amino acids in energy-deprived rat hippocampal slices | Q48345091 |
| | Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report | Q48383441 |
| | Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype | Q48423260 |
| | Scheduling of monoaminergic neurotransmitter receptor expression in the primate neocortex during postnatal development | Q48442176 |
| | Neurometabolic disorders | Q48458341 |
| | Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old. | Q48465115 |
| | Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases | Q48471589 |
| | A case of adult-onset adrenoleukodystrophy with frontal lobe dysfunction: a novel point mutation in the ABCD1 gene | Q48476976 |
| | Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis | Q48478490 |
| | Abnormal dendritic development in maple syrup urine disease | Q48514512 |
| | The neuropsychiatry of Niemann-Pick type C disease in adulthood | Q48525093 |
| | Comparison of brain perfusion SPECT and MRI findings in children with neuronal ceroid-lipofuscinosis and in their families | Q48542908 |
| | Niemann-Pick disease type C. Study on the nature of the cerebral storage process | Q48550600 |
| | Sometimes when you hear hoofbeats ... two cases of inherited metabolic diseases with initial presentation of psychiatric symptoms | Q48558061 |
| | The adult and a new late adult forms of neuronal ceroid lipofuscinosis | Q48558909 |
| | Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic study | Q48585633 |
| | Familial occurrence of adult-type neuronal ceroid lipofuscinosis | Q48617487 |
| | Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life | Q48620915 |
| | GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. | Q48651482 |
| | Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C. | Q48662769 |
| | Organic brain syndromes: new classification, concepts and prospects | Q48687797 |
| | Sulphur-containing amino acids modulate noradrenaline release from hippocampal slices. | Q48755167 |
| | MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency. | Q48785449 |
| P433 | issue | 4 | |
| P921 | main subject | neuropsychiatry | Q2699874 |
| P304 | page(s) | 687-702 | |
| P577 | publication date | 2013-05-23 | |
| P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
| P1476 | title | The neuropsychiatry of inborn errors of metabolism | |
| P478 | volume | 36 | |