Tools for diagnosis of leukodystrophies and other disorders presenting with white matter disease (Q36060087)

11 August 2017

1 reference

title

Tools for diagnosis of leukodystrophies and other disorders presenting with white matter disease (English)

1 reference

11 August 2017

Adeline Vanderver

1

1 reference

11 August 2017

publication date

1 March 2005

1 reference

Current Neurology and Neuroscience Reports

11 August 2017

published in

1 reference

11 August 2017

volume

5

1 reference

11 August 2017

issue

2

1 reference

11 August 2017

page(s)

110-118

1 reference

Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients

11 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0008-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0008-1

Leukodystrophy in children: a pictorial review of MR imaging features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0008-1

A new leukoencephalopathy with vanishing white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0008-1

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0008-1

Five new cases of a recently described leukoencephalopathy with high brain lactate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0008-1

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

21 January 2018

1 reference

12 December 2020

Adult Niemann-Pick disease type C mimicking features of multiple sclerosis

1 reference

12 December 2020

Lack of progression of brain atrophy in Aicardi-Goutières syndrome

1 reference

12 December 2020

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

1 reference

12 December 2020

Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype

1 reference

12 December 2020

Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation.

1 reference

12 December 2020

MRI nerve root enhancement in Krabbe disease

1 reference

12 December 2020

Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy

1 reference

12 December 2020

Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency

1 reference

12 December 2020

Adrenoleukodystrophy: a scoring method for brain MR observations

1 reference

12 December 2020

Neuroimaging findings in late infantile GM1 gangliosidosis

1 reference

12 December 2020

Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy

1 reference

12 December 2020

Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl.

1 reference

12 December 2020

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

1 reference

12 December 2020

Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter

1 reference

12 December 2020

Magnetic resonance imaging in juvenile Canavan disease

1 reference

12 December 2020

Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: a case of adult-onset GM1 gangliosidosis

1 reference

12 December 2020

Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin

1 reference

12 December 2020

MR of childhood metachromatic leukodystrophy.

1 reference

12 December 2020

MR in children with L-carnitine deficiency.

1 reference

12 December 2020

Late onset white matter disease in peroxisome biogenesis disorder

1 reference

12 December 2020

Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept

1 reference

12 December 2020

MRI appearances of metachromatic leukodystrophy

1 reference

12 December 2020

Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations.

1 reference

12 December 2020

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

1 reference

12 December 2020

Propionic acidemia: a neuropathology case report and review of prior cases

1 reference

12 December 2020

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

1 reference

12 December 2020

A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain

1 reference

12 December 2020

Reversible white matter alterations in encephalopathy associated with autoimmune thyroid disease.

1 reference

12 December 2020

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

1 reference

12 December 2020

Alexander disease: diagnosis with MR imaging.

1 reference

12 December 2020

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Comparison of MRI white matter changes with neuropsychologic impairment in Cockayne syndrome

1 reference

12 December 2020

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

1 reference

12 December 2020

Optic nerve enlargement in Krabbe's disease

1 reference

12 December 2020

Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease

1 reference

12 December 2020

Intracranial and spinal MR imaging findings associated with Krabbe's disease: case report.

1 reference

12 December 2020

Childhood ataxia with diffuse central nervous system hypomyelination

1 reference

12 December 2020

MR imaging presentation of intracranial disease associated with Langerhans cell histiocytosis.

1 reference

12 December 2020

Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy

1 reference

12 December 2020

Diffusion magnetic resonance imaging in intermediate form of maple syrup urine disease

1 reference

12 December 2020

Neuroimaging findings in glutaric aciduria type 1

1 reference

12 December 2020

Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate.

1 reference

12 December 2020

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy

1 reference

12 December 2020

Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency

1 reference

12 December 2020

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

1 reference

12 December 2020

The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities

1 reference

12 December 2020

Ornithine transcarbamylase deficiency presenting with strokelike episodes

1 reference

12 December 2020

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

1 reference

12 December 2020

MR findings in Tay-Sachs disease

1 reference

12 December 2020

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

1 reference

12 December 2020

White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI.

1 reference

12 December 2020

Cranial computerized tomography in dihydropteridine reductase deficiency

1 reference

12 December 2020

10.1007/S11910-005-0008-1

Identifiers

DOI

1 reference

11 August 2017

1 reference