(Q38178697)

30 August 2017

title

Treatable inborn errors of metabolism causing neurological symptoms in adults (English)

1 reference

30 August 2017

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427801%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

S M Sirrs

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427801%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

S Stockler

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427801%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

C D M van Karnebeek

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427801%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

publication date

1 December 2013

1 reference

Molecular Genetics and Metabolism

30 August 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427801%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427801%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427801%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

431-438

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427801%20AND%20SRC:MED&resulttype=core&format=json

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

1 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Brain dopamine-serotonin vesicular transport disease and its treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Myoclonus and dystonia in cerebrotendinous xanthomatosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Regional variations in medium-chain acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Adult-onset cerebral folate deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Cerebral folate deficiency: a neurometabolic syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Validation of the Hematopoietic Cell Transplantation-Specific Comorbidity Index: a prospective, multicenter GITMO study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Lactate increase and oxygen desaturation in mitochondrial disorders--evaluation of two diagnostic screening protocols

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Whole-genome sequencing for optimized patient management

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Genomics in clinical practice: lessons from the front lines

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Exome sequencing can improve diagnosis and alter patient management

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Child Neurology: Krabbe disease: a potentially treatable white matter disorder.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Adult alpha-mannosidosis: clinical progression in the absence of demyelination

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Cerebellar ataxia and coenzyme Q10 deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Abetalipoproteinemia: two case reports and literature review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Diagnosis of Pyridoxine-Dependent Seizures in a Nineteen-Year-Old Patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Occurrence of GCH1 gene mutations in a group of Indian dystonia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Succinic semialdehyde dehydrogenase deficiency in children and adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Clinical features and X-inactivation in females heterozygous for creatine transporter defect.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Recommendations for the diagnosis and treatment of the acute porphyrias

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Congenital intrinsic factor deficiency in a Spanish patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Attenuated variants of Lesch-Nyhan disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

Treatable metabolic psychoses that go undetected: what Niemann-Pick type C can teach us.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.002

10.1016/J.YMGME.2013.10.002

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427801%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference