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Home > JIMD Reports, Volume 22 > Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias
JIMD Reports, Volume 22 |
Johannes Zschocke; Matthias Baumgartner; Eva Morava; Marc Patterson; Shamima Rahman; Verena Peters
Springer Berlin Heidelberg
JIMD Reports, Volume 22
Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias
Authors

Estefanía Lang; Martin Schäfer; Holger Schwender; Norbert J. Neumann; Jorge Frank

ARI Id

1665036420376_4563190

Access

Not Available Free

Pages

17-22

DOI

10.1007/8904_2015_406

Chapter URL

https://rd.springer.com/chapter/10.1007/8904_2015_406

Table of Contents of Book
Showing 1 to 16 of 16 entries
Chapters/HeadingsAuthor(s)PagesInfo
Front Matter
i-vi
Innate and Adaptive Immune Response in Fabry Disease
Wladimir Mauhin; Olivier Lidove; Elisa Masat; Federico Mingozzi; Kuberaka Mariampillai; Jean-Marc Ziza et al.
1-10
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
Majid Alfadhel; Muhammad Talal Alrifai; Daniel Trujillano; Hesham Alshaalan; Ali Al Othaim; Shatha Al Rasheed et al.
11-16
Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias
Estefanía Lang; Martin Schäfer; Holger Schwender; Norbert J. Neumann; Jorge Frank
17-22
Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide
Aneal Khan; David A. Hanley; Colleen McNeil; Steven Boyd
23-28
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium
Stefan Kölker; Dries Dobbelaere; Johannes Häberle; Peter Burgard; Florian Gleich; Marshall L. Summar et al.
29-38
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy
I. M. L. W. Körver-Keularts; M. de Visser; H. D. Bakker; R. J. A. Wanders; F. Vansenne; H. R. Scholte et al.
39-45
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l-DOPA, 5-HTP and BH4 Trials
Michel Mazzuca; Marie-Anne Maubert; Léna Damaj; Fabienne Clot; Marylène Cadoudal; Christele Dubourg et al.
47-55
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms
Joanne T. Marsden; Simon Guppy; Penelope Stein; Timothy M. Cox; Michael Badminton; Tricia Gardiner et al.
57-65
Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
Alina Levtova; Stephane Camuzeaux; Anne-Marie Laberge; Pierre Allard; Catherine Brunel-Guitton; Paola Diadori et al.
67-75
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy
Johann Hofereiter; Matthew D. Smith; Jai Seth; Katarina Ivana Tudor; Zoe Fox; Anton Emmanuel et al.
77-83
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia
Masa-aki Kawashiri; Hayato Tada; Marowa Hashimoto; Matsuo Taniyama; Takamitsu Nakano; Katsuyuki Nakajima et al.
85-94
Girls with Seizures Due to the c. 320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing
Bethanny Smith-Packard; Scott M. Myers; Marc S. Williams
95-98
Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures
Stefanie Kung; Mark Walters; Peter Claes; Peter LeSouef; Jack Goldblatt; Andrew Martin et al.
99-106
Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)
Hao-Chuan Liu; Amandine Perrin; Ting-Rong Hsu; Chia-Feng Yang; Hsiang-Yu Lin; Wen-Chung Yu et al.
107-113
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature
Anna Ardissone; Tiziana Granata; Andrea Legati; Daria Diodato; Laura Melchionda; Eleonora Lamantea et al.
115-120
Chapters/HeadingsAuthor(s)PagesInfo
Showing 1 to 16 of 16 entries
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