Franklin

JIMD Reports, Volume 42 [electronic resource] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.

Publication:
Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2018.
Series:
Biomedical and Life Sciences (Springer-11642)
JIMD reports 2192-8304 ; 42
JIMD Reports, 2192-8304 ; 42
Format/Description:
Book
1 online resource (VI, 119 pages) : 18 illustrations, 12 illustrations in color.
Subjects:
Human genetics.
Metabolism -- Disorders.
Pediatrics.
Medicine.
Local subjects:
Human Genetics.
Metabolic Diseases.
Pediatrics.
Molecular Medicine.
System Details:
text file PDF
Summary:
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Contents:
Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis
A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy
Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair
The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria
Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops
Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis
Mitochondrial Disease in Children: The Nephrologist's Perspective
Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients
Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients
Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis
Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review
Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.
Contributor:
Morava, Eva. editor., Editor,
Baumgartner, Matthias. editor., Editor,
Patterson, Marc, editor., Editor,
Rahman, Shamima. editor., Editor,
Zschocke, Johannes, editor., Editor,
Peters, Verena, editor., Editor,
SpringerLink (Online service)
Contained In:
Springer eBooks
Other format:
Printed edition:
Printed edition:
ISBN:
978-3-662-58365-4
9783662583654
Publisher Number:
10.1007/978-3-662-58365-4 doi
Access Restriction:
Restricted for use by site license.
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