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Monatsschrift Kinderheilkunde, ISSN 0026-9298, 10/2006, Volume 154, Issue 10, pp. 971 - 977
Angeborene lysosomale Speichererkrankungen sind gekennzeichnet durch intralysosomale Speicherung von Substanzen, die normalerweise in diesen Organellen ab-... 
Sialinsäurespeichererkrankung | Cystinosis | Lysosomale Speichererkrankung | Lysosomal transport defects | Niemann-Pick type C disease | Zystinose | M. Niemann-Pick Typ C | Lysosomale Transportdefekte | Lysosomal storage disease | Sialic acid storage disease
Journal Article
CASE REPORT - Ornithine transcarbamylase deficiency in a girl with hyperkinetic behaviour, 04/2004
Congenital ornithine transcarbamylase deficiency (OTCD, OMIM 311250, Xp21.1) in humans results in hyperammonaemia with subsequent neurological symptoms... 
Neurology | Pediatrics | pn04019 ornithine transcarbamylase deficiency, hyperammonaemia, encephalopathy, glutamine, MR-spectroscopy
Journal
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2017, Volume 48, Issue S 01, pp. S1 - S45
Conference Proceeding
Journal Article
Amino Acids, ISSN 0939-4451, 5/2012, Volume 42, Issue 5, pp. 1765 - 1772
Journal Article
Klinische Pädiatrie, ISSN 0300-8630, 11/2017, Volume 229, Issue 6, pp. 335 - 357
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2016, Volume 47, Issue 5, pp. 308 - 317
Abstract Objective  In this retrospective study, we aimed to assess frequency, types, and long-term outcome of neurological disease during acute Mycoplasma... 
Original Article | hypersomnia | Mycoplasma pneumoniae | transverse myelitis | cerebellitis | children | encephalitis | DIAGNOSIS | IMMUNOGLOBULIN | CLINICAL NEUROLOGY | IGM ANTIBODIES | CHILDHOOD ENCEPHALITIS | NERVOUS-SYSTEM COMPLICATIONS | DISABILITY STATUS SCALE | PEDIATRICS
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2017, Volume 48, Issue S 01, pp. S1 - S45
Conference Proceeding
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e125 - e126
Journal Article
Klinische Pädiatrie, ISSN 0300-8630, 11/2017, Volume 229, Issue 6, pp. e1 - e1
Journal Article
Amino Acids, ISSN 0939-4451, 3/2010, Volume 38, Issue 3, pp. 959 - 972
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2017, Volume 48, Issue S 01, pp. S1 - S45
Conference Proceeding
20.