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A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.

• Authors : Mengel E; Institute of Clinical Science for LSD, SphinCS, Hochheim, Germany.; Muschol N

Subjects: Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/epidemiology ; Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/genetics ; Niemann-Pick Diseases*/Niemann-Pick Diseases*/Niemann-Pick Diseases*/epidemiology

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 13; Vol. 19 (1), pp. 161. Date of Electronic Publication: 2024 Apr 13.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.

• Authors : Kaminski WE; Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Germany.; Klünemann HH

Subjects: Mutation, Missense*; Niemann-Pick Diseases/Niemann-Pick Diseases/Niemann-Pick Diseases/*genetics; Adolescent

• Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2002 Sep; Vol. 25 (5), pp. 385-9.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Print ISSN: 0141-8955 (Print)

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Reports from University Hospital Add New Data to Findings in Niemann-Pick Diseases and Conditions (Distinguishing Neurocognitive Deficits In Adult Patients With Np-c From Early Onset Alzheimer's Dementia).

• Source: Mental Health Weekly Digest. April 15, 2019, 460.

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Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.

• Authors : Hopf, Susanne; Hennermann, Julia B.; Schuster, Alexander K.

• Source: PLoS ONE. June 4, 2021, Vol. 16 Issue 6, e0252825.

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[In memoriam Ludwig Pick (8-31-1868--2-3-1944)].

• Authors : Gruber GG

Subjects: Bibliographies as Topic ; Germany ; History, 19th Century Pick L

• Source: Verhandlungen der Deutschen Gesellschaft fur Pathologie [Verh Dtsch Ges Pathol] 1968; Vol. 52, pp. 574-80.Publisher: Fischer Country of Publication: Germany NLM ID: 7503704 Publication Model: Print Cited Medium: Print ISSN:

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Increased Levels of Sphingosylphosphorylcholine (SPC) in Plasma of Metabolic Syndrome Patients.

• Authors : El-Najjar, Nahed; Orsó, Evelyn; Wallner, Stefan

• Source: PLoS ONE. October 14, 2015, Vol. 10 Issue 10.

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