Baumgartner, Matthias

JIMD Reports, Volume 35

Baumgartner, Matthias - JIMD Reports, Volume 35, ebook


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ISBN: 9783662558331
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Table of contents

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 FBXL4 Variants
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 B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient
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 DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
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

Publication year
JIMD Reports
Page amount
6 pages
Medicine, Health Care, Mode
Printed ISBN

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