(Q30908507)

27 June 2017

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title

Imaging of neurogenetic and neurometabolic disorders of childhood (English)

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27 June 2017

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Andrea Gropman

1

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27 June 2017

language of work or name

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1 March 2004

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Current Neurology and Neuroscience Reports

27 June 2017

published in

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27 June 2017

volume

4

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27 June 2017

issue

2

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27 June 2017

page(s)

139-146

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Normal brain in human newborns: apparent diffusion coefficient and diffusion anisotropy measured by using diffusion tensor MR imaging

27 June 2017

cites work

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https://api.crossref.org/works/10.1007%2FS11910-004-0028-2

Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-004-0028-2

Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-004-0028-2

Membrane phospholipids and high-energy metabolites in childhood ataxia with CNS hypomyelination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-004-0028-2

Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria.

21 January 2018

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12 December 2020

Brain anatomy, gender and IQ in children and adolescents with fragile X syndrome

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12 December 2020

Structural brain abnormalities associated with deletion at chromosome 22q11: quantitative neuroimaging study of adults with velo-cardio-facial syndrome.

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A review of neuropsychological and motor studies in Turner Syndrome.

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Neural correlates of auditory perception in Williams syndrome: an fMRI study.

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Clinical and radiologic improvements in mitochondrial encephalomyelopathy following sodium dichloroacetate therapy

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Holoprosencephaly in children: diffusion tensor MR imaging of white matter tracts of the brainstem--initial experience

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12 December 2020

Velo-cardio-facial syndrome: a distinctive behavioral phenotype

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12 December 2020

Toward an in vivo neurochemical profile: quantification of 18 metabolites in short-echo-time (1)H NMR spectra of the rat brain

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12 December 2020

In vitro and in vivo 13C and 31P NMR analyses of phosphocholine metabolism in rat glioma cells.

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12 December 2020

In vivo 1H NMR spectroscopy of the human brain at 7 T.

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The fragile X premutation: into the phenotypic fold

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Reduced anisotropy of water diffusion in structural cerebral abnormalities demonstrated with diffusion tensor imaging

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Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2)

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Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome

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12 December 2020

Inherited disorders of GABA metabolism

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Abnormal prefrontal cortex function during response inhibition in Turner syndrome: functional magnetic resonance imaging evidence

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Patterns of brain activation in people at risk for Alzheimer's disease.

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X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients

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12 December 2020

Localized proton MR spectroscopy in infants with urea cycle defect

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12 December 2020

Quantitative measurements with localized 1H MR spectroscopy in children with Canavan's disease.

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12 December 2020

Proton magnetic resonance spectroscopy studies in lactic acidosis and mitochondrial disorders

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12 December 2020

Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy

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Corpus callosum and posterior fossa development in monozygotic females: a morphometric MRI study of Turner syndrome

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MRI and MRS in HMG-CoA lyase deficiency

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12 December 2020

Brain imaging in neurogenetic conditions: realizing the potential of behavioral neurogenetics research

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Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience

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Williams syndrome: from genotype through to the cognitive phenotype

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12 December 2020

White matter tract alterations in fragile X syndrome: preliminary evidence from diffusion tensor imaging

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Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease.

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12 December 2020

Phenylketonuria: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy

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12 December 2020

Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.

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12 December 2020

MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation

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12 December 2020

New insights into fragile X syndrome: from molecules to neurobehaviors

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12 December 2020

Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla

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12 December 2020

Neurophysiological investigation of the basis of the fMRI signal

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Increased gyrification in Williams syndrome: evidence using 3D MRI methods.

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Glutaric acidemia type II: neuroimaging and spectroscopy evidence for developmental encephalomyopathy.

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12 December 2020

Inferring microstructural features and the physiological state of tissues from diffusion-weighted images

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12 December 2020

Microstructural development of human newborn cerebral white matter assessed in vivo by diffusion tensor magnetic resonance imaging

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12 December 2020

In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia

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12 December 2020

The clinical syndrome of creatine transporter deficiency

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12 December 2020

10.1007/S11910-004-0028-2

Identifiers

DOI

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Dimensions Publication ID

27 June 2017

1044421764

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