Inherited lipid storage diseases of the central nervous system

scientific article published on September 1, 1979

Inherited lipid storage diseases of the central nervous system is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1016/S0045-9380(79)80020-1
P953full work available at URLhttps://api.elsevier.com/content/article/PII:S0045938079800201?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0045938079800201?httpAccept=text/xml
P698PubMed publication ID117977

P2093author name stringA. K. Percy
L. J. Shapiro
M. M. Kaback
P2860cites workganglioside metabolic processQ21109832
Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase ComponentQ28256106
Functions of lysosomesQ29614182
METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.Q33355882
Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidaseQ33696068
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseaeQ36456409
The neuronal ceroid lipofuscinosesQ38681549
The prenatal diagnosis of inborn errors of metabolismQ39886407
Skin punch biopsy in the diagnosis of juvenile neuronal ceroid-lipofuscinosis. A comparison with leukocyte peroxidase assayQ40037393
alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).Q41854457
Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous systemQ43643549
GM3 (hematoside) sphingolipodystrophyQ44451966
Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementiaQ44975342
Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis)Q48710659
Generalized gangliosidosis: beta-galactosidase deficiency.Q51185420
Skin biopsy as a contribution to diagnosis in late infantile amaurotic idiocy with curvilinear bodies.Q53916302
I-cell disease: a clinical picture.Q54775428
Enzymatic Defect in Fabry's DiseaseQ59383540
Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimensQ67511616
Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblastsQ67546931
Cholesterol ester storage disease: clinical, biochemical, and pathological studiesQ67570954
The genetic mucolipidoses. Diagnosis and differential diagnosisQ68456267
Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosisQ71815752
[On an enzyme from swine kidneys which cleave cerebroside sulfuric acid esters]Q79447175
P433issue11
P407language of work or nameEnglishQ1860
P304page(s)1-51
P577publication date1979-09-01
P1433published inCurrent problems in pediatricsQ27710573
P1476titleInherited lipid storage diseases of the central nervous system
P478volume9

Reverse relations

cites work (P2860)
Q44176550Farber's disease: a fine structural study
Q40072113Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study

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