Literature DB >> 209660

Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family.

K Harzer, W Schlote, J Peiffer, H U Benz, A P Anzil.   

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Year:  1978        PMID： 209660     DOI： 10.1007/bf00685003

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  20 in total

1.  Niemann-Pick disease (Crocker's type C): A histological study of the distribution and qualitative differences fo the storage process.

Authors:  M Elleder; A Jirásek; F Smíd
Journal:  Acta Neuropathol       Date:  1975-12-19       Impact factor: 17.088

2.  Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes.

Authors:  D A Wenger; G Barth; J H Githens
Journal:  Am J Dis Child       Date:  1977-09

3.  Resolution of tissue sphingomyelinase isoelectric profile in multiple components is extraction-dependent: evidence for a component defect in Niemann-Pick disease type C is spurious.

Authors:  K Harzer; A P Anzil; I Schuster
Journal:  J Neurochem       Date:  1977-12       Impact factor: 5.372

4.  Letters: A simple sphingomyelinase determination for Niemann-Pick disease: differential diagnosis of types A, B and C.

Authors:  K Harzer; H U Benz
Journal:  J Neurochem       Date:  1973-10       Impact factor: 5.372

5.  Niemann-Pick disease type C: case report with ultrastructural findings.

Authors:  A P Anzil; K Blinzinger; P Mehraein; S Dozic
Journal:  Neuropadiatrie       Date:  1973-04

6.  [An infantile-juvenile, subchronically progressive lipoidosis of the sphingomyelinoses (Niemann-Pick) form--a new type? Clinical, pathohistological, electron microscopic and biochemical studies].

Authors:  H R Wiedemann; H Debuch; K Lennert; R Caesar; S Blümcke; D Harms; M Tolksdorf; P N Seng; H D Korenke; H Gerken; F Freitag; K Dörner
Journal:  Z Kinderheilkd       Date:  1972

7.  [Augmentation of bis(monoacylglycerin)phosphric acid in sphingomyelinosis (M. Niemann-Pick?)].

Authors:  P N Seng; H Debuch; B Witter; H R Wiedemann
Journal:  Hoppe Seylers Z Physiol Chem       Date:  1971-02

8.  Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C).

Authors:  M Philippart; L Martin; J J Martin; J H Menkes
Journal:  Arch Neurol       Date:  1969-03

9.  Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.

Authors:  J P Kampine; R O Brady; J N Kanfer; M Feld; D Shapiro
Journal:  Science       Date:  1967-01-06       Impact factor: 47.728

10.  Juvenile dystonic lipidosis: an unusual form of neurovisceral storage disease.

Authors:  G Karpati; S Carpenter; L S Wolfe; F Andermann
Journal:  Neurology       Date:  1977-01       Impact factor: 9.910
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  20 in total

Review 1.  Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature.

Authors:  M T Vanier
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  Feline sphingolipidosis resembling Niemann-Pick disease type C.

Authors:  A C Lowenthal; J F Cummings; D A Wenger; M A Thrall; P A Wood; A de Lahunta
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

3.  Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk.

Authors:  M T Vanier; C Rodriguez-Lafrasse; R Rousson; G Mandon; J Boué; A Choiset; M F Peyrat; C Dumontel; M C Juge; P G Pentchev
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

4.  Fetal Niemann-Pick disease type C: ultrastructural and lipid findings in liver and spleen.

Authors:  C Dumontel; C Girod; F Dijoud; Y Dumez; M T Vanier
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1993

5.  Neurofibrillary tangles in Niemann-Pick disease type C.

Authors:  K Suzuki; C C Parker; P G Pentchev; D Katz; B Ghetti; A N D'Agostino; E D Carstea
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088

6.  Niemann-Pick disease type C. Study on the nature of the cerebral storage process.

Authors:  M Elleder; A Jirásek; F Smíd; J Ledvinová; G T Besley
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

7.  [Niemann-Pick disease type C--a neurometabolic disease through disturbed intracellular lipid transport].

Authors:  A J Grau; M Weisbrod; E Hund; K Harzer
Journal:  Nervenarzt       Date:  2003-10       Impact factor: 1.214

8.  Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C.

Authors:  M Elleder; A Jirásek; J Vlk
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1983

Review 9.  The neuropsychiatry of inborn errors of metabolism.

Authors:  Mark Walterfang; Olivier Bonnot; Ramon Mocellin; Dennis Velakoulis
Journal:  J Inherit Metab Dis       Date:  2013-05-23       Impact factor: 4.982

10.  Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies.

Authors:  E F Gilbert; J Callahan; C Viseskul; J M Opitz
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183
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