review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | A. K. Percy | |
L. J. Shapiro | |||
M. M. Kaback | |||
P2860 | cites work | ganglioside metabolic process | Q21109832 |
Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component | Q28256106 | ||
Functions of lysosomes | Q29614182 | ||
METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE. | Q33355882 | ||
Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase | Q33696068 | ||
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae | Q36456409 | ||
The neuronal ceroid lipofuscinoses | Q38681549 | ||
The prenatal diagnosis of inborn errors of metabolism | Q39886407 | ||
Skin punch biopsy in the diagnosis of juvenile neuronal ceroid-lipofuscinosis. A comparison with leukocyte peroxidase assay | Q40037393 | ||
alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). | Q41854457 | ||
Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system | Q43643549 | ||
GM3 (hematoside) sphingolipodystrophy | Q44451966 | ||
Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia | Q44975342 | ||
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 Disease | Q59383540 | ||
Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens | Q67511616 | ||
Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts | Q67546931 | ||
Cholesterol ester storage disease: clinical, biochemical, and pathological studies | Q67570954 | ||
The genetic mucolipidoses. Diagnosis and differential diagnosis | Q68456267 | ||
Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis | Q71815752 | ||
[On an enzyme from swine kidneys which cleave cerebroside sulfuric acid esters] | Q79447175 | ||
P433 | issue | 11 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 1-51 | |
P577 | publication date | 1979-09-01 | |
P1433 | published in | Current problems in pediatrics | Q27710573 |
P1476 | title | Inherited lipid storage diseases of the central nervous system | |
P478 | volume | 9 |
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