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Journal Abstract Search

151 related items for PubMed ID: 1148956

  • 21. [Lysosomal storage diseases].
    Schulze M, Groeschel S, Gburek-Augustat J, Nägele T, Horger M.
    Rofo; 2015 Dec; 187(12):1057-60. PubMed ID: 26609772
    [No Abstract] [Full Text] [Related]

  • 22. Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells.
    Young E, Willcox P, Whitfield AE, Patrick AD.
    J Med Genet; 1975 Sep; 12(3):224-9. PubMed ID: 809585
    [Abstract] [Full Text] [Related]

  • 23. Diagnosis of neurometabolic disorders by examination of skin biopsies and lymphocytes.
    Dolman CL.
    Semin Diagn Pathol; 1984 May; 1(2):82-97. PubMed ID: 6100973
    [Abstract] [Full Text] [Related]

  • 24. Inherited lipid storage diseases of the central nervous system.
    Percy AK, Shapiro LJ, Kaback MM.
    Curr Probl Pediatr; 1979 Sep; 9(11):1-51. PubMed ID: 117977
    [No Abstract] [Full Text] [Related]

  • 25. [Diagnostic procedure in neurodegenerative diseases with a chronic course].
    Boltshauser E, Spycher MA.
    Klin Padiatr; 1986 Sep; 198(2):79-83. PubMed ID: 3702276
    [Abstract] [Full Text] [Related]

  • 26. Adult metachromatic leukodystrophy (sulphatide lipidosis) simulating acute schizophrenia. Report of a case.
    Betts TA, Smith WT, Kelly RE.
    Neurology; 1968 Nov; 18(11):1140-2. PubMed ID: 5751920
    [No Abstract] [Full Text] [Related]

  • 27. Dysmyelinating leukodystrophies: "LACK Proper Myelin".
    Hatten HP.
    Pediatr Radiol; 1991 Nov; 21(7):477-82. PubMed ID: 1771108
    [Abstract] [Full Text] [Related]

  • 28. [Procedure for the diagnosis of sphingolipidoses or allied diseases in adult patients with neurological or psychiatric symptoms (author's transl)].
    Pilz H, Heipertz R, Seidel D.
    Nervenarzt; 1979 Dec; 50(12):749-61. PubMed ID: 94938
    [No Abstract] [Full Text] [Related]

  • 29. MR findings in leukodystrophy.
    Demaerel P, Faubert C, Wilms G, Casaer P, Piepgras U, Baert AL.
    Neuroradiology; 1991 Dec; 33(4):368-71. PubMed ID: 1922760
    [Abstract] [Full Text] [Related]

  • 30. PERIPHERAL NERVE CONDUCTION IN METACHROMATIC LEUCODYSTROPHY (SULPHATIDE LIPIDOSIS).
    FULLEETON PM.
    J Neurol Neurosurg Psychiatry; 1964 Apr; 27():100-5. PubMed ID: 14167081
    [No Abstract] [Full Text] [Related]

  • 31. Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens.
    O'Brien JS, Bernett J, Veath ML, Paa D.
    Arch Neurol; 1975 Sep; 32(9):592-9. PubMed ID: 809024
    [Abstract] [Full Text] [Related]

  • 32. Ophthalmological features of some human hereditary disorders with demyelination.
    Taylor D.
    Bull Soc Belge Ophtalmol; 1983 Nov; 208 Pt 1():405-13. PubMed ID: 6675825
    [No Abstract] [Full Text] [Related]

  • 33. Enzymological approaches to the lipidoses.
    Brady RO.
    Ann Clin Lab Sci; 1977 Nov; 7(2):105-12. PubMed ID: 403847
    [Abstract] [Full Text] [Related]

  • 34. The diagnosis of infantile generalized ceroidlipofuscinosis (type Hagberg-Santavuori) using skin biopsy.
    Ceuterick Ch, Martin JJ, Casaer P, Edgar GW.
    Neuropadiatrie; 1976 Aug; 7(3):250-60. PubMed ID: 183172
    [Abstract] [Full Text] [Related]

  • 35. [Pathologic anatomy of mental retardation].
    Kazakova PB, Khokhrina NT.
    Zh Nevropatol Psikhiatr Im S S Korsakova; 1977 Aug; 77(7):1085-98. PubMed ID: 143175
    [No Abstract] [Full Text] [Related]

  • 36. Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.
    Martin JJ, Ceuterick C.
    J Neurol Neurosurg Psychiatry; 1978 Mar; 41(3):232-48. PubMed ID: 416179
    [Abstract] [Full Text] [Related]

  • 37. The ultrastructure of globoid (Krabbe) leukodystrophy.
    Yunis EJ, Lee RE.
    Lab Invest; 1969 Nov; 21(5):415-9. PubMed ID: 5360530
    [No Abstract] [Full Text] [Related]

  • 38. Ultrastructure of peripheral lymphocytes in generalized ceroid-lipofuscinosis. Report of a case.
    Satodate R, Monma N, Sakuma T, Ito N, Itoh M.
    Pathol Res Pract; 1982 Nov; 173(4):369-75. PubMed ID: 6289289
    [Abstract] [Full Text] [Related]

  • 39. [Diagnosis of a case of metachromatic leucodystrophy (Scholz type) by biopsy of a peripheral nerve].
    THIEFFRY S, LYON G.
    Rev Neurol (Paris); 1959 May; 100():452-6. PubMed ID: 13837771
    [No Abstract] [Full Text] [Related]

  • 40. Inborn errors of lipid metabolism: early identification.
    Crocker AC.
    Clin Perinatol; 1976 Mar; 3(1):99-113. PubMed ID: 821692
    [No Abstract] [Full Text] [Related]

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