Therapy insight: inborn errors of metabolism in adult neurology--a clinical approach focused on treatable diseases (Q36811122)

16 August 2017

1 reference

title

Therapy insight: inborn errors of metabolism in adult neurology--a clinical approach focused on treatable diseases (English)

1 reference

16 August 2017

Frédéric Sedel

1

1 reference

PubMed ID

17479075

16 August 2017

Olivier Lyon-Caen

series ordinal

2

1 reference

PubMed ID

17479075

16 August 2017

Jean-Marie Saudubray

series ordinal

3

1 reference

16 August 2017

1 May 2007

1 reference

Nature Clinical Practice Neurology

16 August 2017

1 reference

16 August 2017

3

1 reference

16 August 2017

5

1 reference

16 August 2017

279-290

1 reference

Postpartum "psychosis" in mild argininosuccinate synthetase deficiency

16 August 2017

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Homocystinuria due to 5,10-methylenetetra-hydrofolate reductase deficiency revealed by stroke in adult siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Abetalipoproteinemia. Report of two cases and review of therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Cerebellar ataxia and coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

The psychiatric presentations of Wilson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Psychiatric disorders in patients with cerebrotendinous xanthomatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Clinical approach to treatable inborn metabolic diseases: an introduction

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Ornithine transcarbamylase deficiency--a cause of bizarre behavior in a man.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Adult-onset arginase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Neuropsychiatric Disturbances in Presumed Late-Onset Cobalamin C Disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

The little imitator--porphyria: a neuropsychiatric disorder

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

A diver unconscious after gastroenteritis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Biotin-responsive basal ganglia disease: a novel entity

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Cerebrovascular complications of Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

CNS manifestations of Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Atypical variants of nonketotic hyperglycinemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

1 reference

7 January 2021

Late-onset presentation of pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Iron metabolism in Parkinsonian syndromes

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Dystonia in homocystinuria

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Delayed-onset profound biotinidase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Neurologic crises in hereditary tyrosinemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

1 reference

7 January 2021

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Continuing education in neurometabolic disorders--serine deficiency disorders

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Clinical approach to inherited peroxisomal disorders: a series of 27 patients

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Spasticity and white matter abnormalities in adult phenylketonuria

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Cerebral folate deficiency: life-changing supplementation with folinic acid

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Biotinidase deficiency with neurological features resembling multiple sclerosis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Dopa responsive dystonia

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Homocystinuria presenting as psychosis in an adolescent

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Autosomal dominant transmission of GLUT1 deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Neuropsychiatric porphyria in patients with refractory epilepsy: report of three cases

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Wilson's disease and epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Epileptic seizure as a presenting symptom of cerebrotendinous xanthomatosis.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

B6-responsive disorders: a model of vitamin dependency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Toxic leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Brain MRI changes in phenylketonuria. Associations with dietary status.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0494

7 January 2021

Identifiers

DOI

10.1038/NCPNEURO0494

1 reference

16 August 2017

1 reference

PubMed ID

17479075