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Patterns of brain injury in inborn errors of metabolism
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PubMed
review article
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Europe PubMed Central
title
Patterns of brain injury in inborn errors of metabolism
(English)
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PubMed
main subject
brain
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author name string
Andrea L. Gropman
series ordinal
1
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Crossref
language of work or name
English
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PubMed
publication date
December 2012
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PubMed
published in
Seminars in pediatric neurology
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PubMed
volume
19
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PubMed
issue
4
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PubMed
page(s)
203-10
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PubMed
cites work
Astrocyte-endothelial interactions at the blood-brain barrier
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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7 April 2017
Creatine deficiency syndromes and the importance of creatine synthesis in the brain
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PubMed Central
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PubMed Central
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7 April 2017
CT and MR of the brain in disorders of the propionate and methylmalonate metabolism
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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7 April 2017
Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
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
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
White matter pathology in phenylketonuria
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
Neuron-glial interactions in blood-brain barrier formation.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
Clinical approach to treatable inborn metabolic diseases: an introduction
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PubMed Central
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28 September 2017
Methylmalonic acidemia (MMA).
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
Creatine deficiency syndromes
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
Neuroimaging findings in glutaric aciduria type 1
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
Urea cycle disorders: diagnosis, pathophysiology, and therapy.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
Propionic acidemia: a clinical update
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
Treatment of urea cycle disorders
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 September 2017
Phenylketonuria: screening, treatment and maternal PKU.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 September 2017
Inhibition of brain glutamine accumulation prevents cerebral edema in hyperammonemic rats
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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28 September 2017
Evidence that 3-hydroxyglutaric acid interacts with NMDA receptors in synaptic plasma membranes from cerebral cortex of young rats.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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31 May 2018
Neurologic nonmetabolic presentation of propionic acidemia
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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31 May 2018
Astrocytic-ammonia interactions in hepatic encephalopathy
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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31 May 2018
Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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31 May 2018
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
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31 May 2018
Cerebral edema causing death in children with maple syrup urine disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
31 May 2018
Contribution of the diffusion-weighted MRI in the diagnosis and follow-up of encephalopathy caused by maple syrup urine disease in a full-term newborn
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
Cerebral edema and intracranial hypertension in an adult with maple syrup urine disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
Evidence that the branched-chain alpha-keto acids accumulating in maple syrup urine disease induce morphological alterations and death in cultured astrocytes from rat cerebral cortex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)‐deficient mice: Validation of an animal model to study creatine deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
Correlation of early dynamic CT perfusion imaging with whole-brain MR diffusion and perfusion imaging in acute hemispheric stroke
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
Diagnosis and treatment of maple syrup disease: a study of 36 patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758694
retrieved
28 November 2018
Neurologic outcome of propionic acidemia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23245553
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Primary treatment of propionic acidemia complicated by acute thiamine deficiency
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23245553
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23245553
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23245553
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23245553
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23245553
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.SPEN.2012.09.007
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PMC publication ID
3758694
1 reference
stated in
PubMed
PubMed publication ID
23245553
1 reference
stated in
PubMed
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