(Q34195320)

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Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

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Europe PubMed Central

31 July 2017

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Europe PubMed Central

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up (English)

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Europe PubMed Central

31 July 2017

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based on heuristic

inferred from title

Clara van Karnebeek

object named as

Clara van Karnebeek

6

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Mary B Connolly

object named as

Mary Connolly

5

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Saadet Mercimek-Mahmutoglu

7

object named as

Saadet Mercimek-Mahmutoglu

1 reference

Europe PubMed Central

31 July 2017

author name string

Sylvia Stockler

1

1 reference

Europe PubMed Central

31 July 2017

Barbara Plecko

2

1 reference

Europe PubMed Central

31 July 2017

Sidney M Gospe

3

1 reference

Europe PubMed Central

31 July 2017

Marion Coulter-Mackie

4

1 reference

Europe PubMed Central

31 July 2017

Hans Hartmann

8

1 reference

Europe PubMed Central

31 July 2017

Gunter Scharer

9

1 reference

Europe PubMed Central

31 July 2017

Eduard Struijs

10

1 reference

Europe PubMed Central

31 July 2017

Ingrid Tein

11

1 reference

Europe PubMed Central

31 July 2017

Cornelis Jakobs

12

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Europe PubMed Central

31 July 2017

Peter Clayton

13

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Europe PubMed Central

31 July 2017

Johan L K Van Hove

14

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Europe PubMed Central

31 July 2017

publication date

24 May 2011

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Europe PubMed Central

31 July 2017

Molecular Genetics and Metabolism

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Europe PubMed Central

31 July 2017

104

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Europe PubMed Central

31 July 2017

1-2

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Europe PubMed Central

31 July 2017

48-60

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Europe PubMed Central

31 July 2017

Pyridoxine-dependent and pyridoxine-responsive seizures

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Demographics and diagnosis of pyridoxine-dependent seizures

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Epidemiology of pyridoxine dependent seizures in the Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Prevalence of pyridoxine dependent seizures in south Indian children with early onset intractable epilepsy: A hospital based prospective study

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

CSF glutamate/GABA concentrations in pyridoxine-dependent seizures: etiology of pyridoxine-dependent seizures and the mechanisms of pyridoxine action in seizure control

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Reduced GABA synthesis in pyridoxine-dependent seizures.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Disturbance of GABA metabolism in pyridoxine-dependent seizures

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Vitamins, not surgery: spinal fluid testing in hemispheric epilepsy.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Novel mutations in pyridoxine-dependent epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent seizures: findings from recent studies pose new questions

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Electroencephalographic changes in pyridoxine-dependant epilepsy: new observations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent seizures, clinical and therapeutic aspects

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent seizures: long-term follow-up of two cases with clinical and MRI findings, and pyridoxine treatment

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Longitudinal MRI findings in pyridoxine-dependent seizures

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Vitamin B6-dependent seizures: Pathology and chemical findings in brain

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent seizures: report of a case with atypical clinical features and abnormal MRI scans

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent seizures associated with white matter abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Neonatal seizures after pyridoxine use

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine dependent seizures--a wider clinical spectrum

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Folinic acid responsive seizures: a new syndrome?

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Folinic acid-responsive neonatal seizures.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Folinic acid-responsive seizures initially responsive to pyridoxine

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

L-pipecolic acid oxidation in rat: subcellular localization and developmental study.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

The essential amino acid lysine acts as precursor of glutamate in the mammalian central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pipecolic acid receptors in rat cerebral cortex.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Influence of pipecolic acid on the release and uptake of [3H]GABA from brain slices of mouse cerebral cortex

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Seabream antiquitin: molecular cloning, tissue distribution, subcellular localization and functional expression.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

First purification of the antiquitin protein and demonstration of its enzymatic activity.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

The crystal structure of seabream antiquitin reveals the structural basis of its substrate specificity

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Homology between a human protein and a protein of the green garden pea.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

L-pipecolic acid metabolism in human liver: L-alpha-aminoadipate delta-semialdehyde oxidoreductase

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Progress in the definition of a reference human mitochondrial proteome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Computational method to predict mitochondrially imported proteins and their targeting sequences

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxal-5'-phosphate concentration as marker for vitamin-B6-dependent seizures in the newborn

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Acute isoniazid toxicity and the need for adequate pyridoxine supplies

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

A genomic overview of pyridoxal-phosphate-dependent enzymes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

The family of glycogen phosphorylases: structure and function

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Sphingosine-1-phosphate lyase SPL is an endoplasmic reticulum-resident, integral membrane protein with the pyridoxal 5'-phosphate binding domain exposed to the cytosol.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Metabolism of lysine in alpha-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: evidence for an alternative pathway of pipecolic acid formation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Anticonvulsant activity of muscimol and gamma-aminobutyric acid against pyridoxal phosphate-induced epileptic seizures

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

A paradoxical rise of neonatal seizures after treatment with vitamin B6.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

B6-responsive disorders: a model of vitamin dependency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Familial hyperphosphatasia with mental retardation, seizures, and neurologic deficits

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Mechanism of drug-induced vitamin B6 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Very-late-onset pyridoxine-dependent seizures not linking to the known 5q31 locus

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Randomized, controlled trial of high-dose intravenous pyridoxine in the treatment of recurrent seizures in children

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Combination therapy of infantile spasms with high-dose pyridoxal phosphate and low-dose corticotropin

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Recurrence of seizures in childhood epilepsy after discontinuation of antiepileptic drugs

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Long-term follow-up of vitamin B(6)-responsive West syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Efficacy of pyridoxal phosphate in treating an adult with intractable status epilepticus

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Convulsions in young infants as a result of pyridoxine (vitamin B6) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Convulsive seizures in infants with pyridoxine-deficient diet

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

Analysis and update of the human aldehyde dehydrogenase (ALDH) gene family

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.05.014

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1016/J.YMGME.2011.05.014

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Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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