The inherited neurodegenerative disorders of childhood: clinical assessment (Q39595616)

13 September 2017

The inherited neurodegenerative disorders of childhood: clinical assessment (English)

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13 September 2017

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A K Percy

1

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13 September 2017

1 April 1987

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Journal of Child Neurology

13 September 2017

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13 September 2017

2

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13 September 2017

2

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13 September 2017

82-97

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A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

13 September 2017

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Central nervous system involvement in adult-onset Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Neurologic complications of Gaucher's disease, type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Juvenile-onset metachromatic leukodystrophy: Biochemical and electrophysiologic studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Juvenile metachromatic leukodystrophy. Clinical, biochemical, and neuropathologic studies in nine new cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Late adult-onset metachromatic leukodystrophy. Dementia and polyneuropathy in a 63-year-old man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Early manifestations of multiple sulfatase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Juvenile GM2-gangliosidosis: Clinical variant of Tay-Sachs disease or a new disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia: Clinical and biochemical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adult-onset GM2 gangliosidosis Seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Spinocerebellar degeneration: Hexosaminidase A and B deficiency in two adult sisters

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adult GM1-gangliosidosis: clinical patterns and rectal biopsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Type III (chronic) GM1-gangliosidosis. Histochemical and ultrastructural studies of rectal biopsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adrenoleukodystrophy. A clinical and pathological study of 17 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy I. Clinical and endocrinologic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Neonatal-onset adrenoleukodystrophy in a girl

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Fatty acid abnormality in adrenoleukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Dolichols in brain and urinary sediment in neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

The cherry-red spot-myoclonus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Macular cherry-red spot and myoclonus syndrome. Juvenile form of sialidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Computerized tomography in demyelinating disease of the young

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Computerized cranial tomography in cerebral diseases of white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Juvenile metachromatic leukodystrophy: evoked potentials and computed tomography.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Metachromatic leukodystrophy (MLD). XV. Adult MLD with focal lesions by computed tomography.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Computed tomography in Krabbe's disease: comparison with neuropathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Specific CT findings in Krabbe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Krabbe disease: specific MRI and CT findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

CT scanning and diagnosis of adrenoleukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Computed tomographic evaluation of the early phase of adrenoleukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adrenoleukodystrophy (ALD): clinical and CT features of a childhood variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adrenoleukodystrophy--its diverse CT appearances and an evolutive or phenotypic variant: the leukodystrophy without adrenal insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adrenoleukodystrophy: unusual computed tomographic appearance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Neuronal ceroidlipofuscinosis: CCT findings in fourteen patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Visually evoked responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Correlating auditory evoked and brainstem histologic abnormalities in infantile Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Brain stem auditory, visual and somatosensory evoked potentials in leukodystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adult metachromatic leukodystrophy: neurophysiologic findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Neurophysiological investigations in GM1 and GM2 gangliosidoses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adrenoleucodystrophy: neurophysiological aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

The progress of adrenoleukodystrophy as revealed by auditory brainstem evoked responses and brainstem histology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Auditory brain-stem responses in adrenomyeloneuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Evoked response studies in patients with adrenoleukodystrophy and heterozygous relatives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Multimodality evoked potentials in patients and carriers with adrenoleukodystrophy and adrenomyeloneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adrenoleukodystrophy and variants. Clinical, neurophysiological and biochemical studies in patients and family members.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Evoked Potentials in Neuronal Ceroid Lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Dolichol metabolism in cultured skin fibroblasts from patients with "neuronal" ceroid lipofuscinosis (Batten's disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

On the ultrastructural diversity and essence of residual bodies in neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Infantile neuronal ceroid lipofuscinosis: isolation of storage material.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Santavuori disease: diagnosis by leukocyte ultrastructure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Adrenomyeloneuropathy. A report on two families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Delivery of active hexosaminidase across the blood-brain barrier in rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Enzyme replacement with liposomes containing beta-galactosidase from Charonia lumpas in murine globoid cell leukodystrophy (twitcher).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Computed tomography in white-matter disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Electron Microscopy of Skin and Peripheral Blood Lymphocytes in Infantile (Santavuori) Neuronal Ceroid Lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

Auditory brainstem response (ABR) in infantile Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307388700200202

10.1177/088307388700200202

21 January 2018

Identifiers

DOI

1 reference

release_yxdgxeh4sje3xjqkflgjihjoee

13 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/yxdgxeh4sje3xjqkflgjihjoee

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

3110262

1 reference

PubMed ID

3110262