Baumgartner, Matthias
JIMD Reports, Volume 35
1. Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability
Austin Larson, James D. Weisfeld-Adams, Tim A. Benke, Penelope E. Bonnen
2. Hyperammonemia as a Presenting Feature in Two Siblings with
Sarah U. Morton, Edward G. Neilan, Roy W. A. Peake, Jiahai Shi, Klaus Schmitz-Abe, Meghan Towne, Kyriacos Markianos, Sanjay P. Prabhu, Pankaj B. Agrawal
3. Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital
Nieves Martín-Begué, Silvia Alarcón, Charlotte Wolley-Dod, Luis Enrique Lara, Álvaro Madrid, Paola Cano, Mireia Toro, Gema Ariceta
4. Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature
Alison Christy, William Nyhan, Jenny Wilson
5. Vitamin B
E. Maines, G. Morandi, G. Gugelmo, F. Ion-Popa, N. Campostrini, A. Pasini, M. Vincenzi, F. Teofoli, M. Camilot, A. Bordugo
6. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine
Gerarda Cappuccio, Paldeep S. Atwal, Taraka R. Donti, Kiki Ugarte, Nadia Merchant, William J. Craigen, V. Reid Sutton, Sarah H. Elsea
7. Previously Unreported Biallelic Mutation in
Sema Kalkan Ucar, Johannes A. Mayr, René G. Feichtinger, Ebru Canda, Mahmut Çoker, Saskia B. Wortmann
8. Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience
Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, Frenny Sheth
9. The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening
Callum Wilson, Detlef Knoll, Mark Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster
10. Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency
Elsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave, Sudhir Sane, Hiroki Otsuka, Hideo Sasai, Yuka Aoyama, Mina Nakama, Hidenori Ohnishi, Shaimaa Mahmoud, Mohamed Abd El Aal, Toshiyuki Fukao
11. Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation
S. Varma, A. D. McIntyre, R. A. Hegele
12. Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts
Damien Bouvier, Christine Vianey-Saban, Séverine Ruet, Cécile Acquaviva
13. Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria
Adam M. Taylor, Koen P. Vercruysse
14. Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
Britt van Erven, Lindsey Welling, Sandra C. van Calcar, Artemis Doulgeraki, François Eyskens, Joanna Gribben, Eileen P. Treacy, Rein Vos, Susan E. Waisbren, M. Estela Rubio-Gozalbo, Annet M. Bosch
15. Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report
Evelyn L. Fisher, Rose A. Sevcik, MaryAnn Romski
16. White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother
Tokola Anna, Brandstack Nina, Hakkarainen Antti, Salli Eero, Åberg Laura, Autti Taina
17. Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother
Anna Tokola, Nina Brandstack, Antti Hakkarainen, Eero Salli, Laura Åberg, Taina Autti
Keywords: Biomedicine, Human Genetics, Metabolic Diseases, Pediatrics, Molecular Medicine
- Editor
- Baumgartner, Matthias
- Morava, Eva
- Patterson, Marc
- Peters, Verena
- Rahman, Shamima
- Zschocke, Johannes
- Publisher
- Springer
- Publication year
- 2017
- Language
- en
- Edition
- 1
- Series
- JIMD Reports
- Page amount
- 6 pages
- Category
- Medicine, Health Care, Mode
- Format
- Ebook
- eISBN (PDF)
- 9783662558331
- Printed ISBN
- 978-3-662-55832-4