(Q36697387)

15 August 2017

1 reference

title

The inherited leukodystrophies: a clinical overview (English)

1 reference

https://api.crossref.org/works/10.1007/BF00711905

15 August 2017

The inherited leukodystrophies: A clinical overview (English)

1 reference

23 August 2024

author name string

J. Aicardi

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7692130

23 August 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7692130

23 August 2024

publication date

1 January 1993

1 reference

full work available at URL

15 August 2017

https://onlinelibrary.wiley.com/doi/pdf/10.1007/BF00711905

1 reference

https://api.crossref.org/works/10.1007/BF00711905

Journal of Inherited Metabolic Disease

23 August 2024

published in

1 reference

15 August 2017

volume

16

1 reference

15 August 2017

issue

4

1 reference

15 August 2017

page(s)

733-743

1 reference

MRI and CT findings in Krabbe disease

15 August 2017

cites work

1 reference

12 December 2020

Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency

1 reference

12 December 2020

An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy

1 reference

12 December 2020

Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation

1 reference

12 December 2020

Adrenoleukodystrophy: dietary oleic acid lowers hexacosanoate levels

1 reference

12 December 2020

Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy

1 reference

12 December 2020

Autistic children: diagnosis and clinical features

1 reference

12 December 2020

1 reference

12 December 2020

Inborn errors and demyelination: MRI and the diagnosis of white matter disease

1 reference

12 December 2020

Alexander's disease. A disease of astrocytes

1 reference

12 December 2020

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein

1 reference

12 December 2020

Multiple sulphatase deficiency presenting at birth

1 reference

12 December 2020

Infantile CNS spongy degeneration--14 cases: clinical update

1 reference

12 December 2020

A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease

1 reference

12 December 2020

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

1 reference

12 December 2020

Late onset Krabbe's leukodystrophy: a report of four cases

1 reference

12 December 2020

Symptomatology of late onset Krabbe's leukodystrophy: the European experience

1 reference

12 December 2020

Molecular basis of different forms of metachromatic leukodystrophy

1 reference

12 December 2020

Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings

1 reference

12 December 2020

Late-onset globoid cell leukodystrophy. Report on seven new patients

1 reference

12 December 2020

Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy.

1 reference

12 December 2020

Phenylketonuria: MR imaging of the brain with clinical correlation

1 reference

12 December 2020

Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Late-Onset Krabbe Disease (Globoid Cell Leukodystrophy): Clinical and Biochemical Features of 15 Cases

1 reference

12 December 2020

Krabbe's disease: clinical presentation of neurological variants

1 reference

12 December 2020

MRI detects cerebral involvement in neurologically asymptomatic patients with adrenoleukodystrophy

1 reference

12 December 2020

Morphologic and histoanatomic observations of the brain in untreated human phenylketonuria

1 reference

12 December 2020

Late-onset metachromatic leukodystrophy: molecular pathology in two siblings

1 reference

12 December 2020

Clinical Aspects of Adrenoleukodystrophy and Adrenomyeloneuropathy

1 reference

12 December 2020

Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation

1 reference

12 December 2020

Molecular Genetics of Metachromatic Leukodystrophy

1 reference

12 December 2020

Metachromatic leucodystrophy: review of 38 cases

1 reference

12 December 2020

https://api.crossref.org/works/10.1007/BF00711905

peroxisomal disease

series ordinal

28

1 reference

23 August 2024

Identifiers

DOI

10.1007/BF00711905

1 reference

15 August 2017

1 reference