Notice bibliographique
- Notice
Type(s) de contenu et mode(s) de consultation : Texte noté : électronique
Titre(s) : JIMD reports-- Case and research reports. 2012/3 [Texte électronique] / SSIEM
Publication : Berlin ; New York : Springer, cop. 2012
Description matérielle : 1 online resource (1 texte électronique (vii, 129 p.))
Collection : JIMD Reports ; 6
Note(s) : Titre de l'écran-titre (visionné le 22 juillet 2013). - Bibliogr
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
Autre(s) auteur(s) : Society for the Study of Inborn Errors of Metabolism. Fonction indéterminée
Sujet(s) : Médecine
Génétique humaine
Physiologie humaine
Pédiatrie
Indice(s) Dewey :
616.390 42 (23e éd.) = Maladies de la nutrition et du métabolisme (médecine) - Maladies héréditaires
Identifiants, prix et caractéristiques : ISBN 9783642281297
Identifiant de la notice : ark:/12148/cb44703931q
Notice n° :
FRBNF44703931
(notice reprise d'un réservoir extérieur)
Table des matières : Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted
DNA Mutation Analysis /Sachiko Nakagawa, Jie Zhan, Wei Sun, Jose Carlos Ferreira and
Steven Keiles, et al. ; A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency
/Monique Fontaine, Anne-Frédérique Dessein, Claire Douillard, Dries Dobbelaere and
Michèle Brivet, et al. ; Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome
/Jessica A. Scott Schwoerer, Lisa Obernolte, Sandra Van Calcar, Susan Heighway and
Heather Bankowski, et al. ; Dihydropyrimidinase Deficiency: The First Feline Case
of Dihydropyrimidinuria with Clinical and Molecular Findings /Hye-Sook Chang, Takako
Shibata, Satoshi Arai, Chunhua Zhang and Akira Yabuki, et al. ; Molecular Epidemiology
of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception
Heterozygote Detection /Laura E. Laróvere, Silene M. Silvera Ruiz, Celia J. Angaroni
and Raquel Dodelson de Kremer ; Integration of PCR-Sequencing Analysis
Cross Correction Following Haemopoietic Stem Cell Transplant for Purine Nucleoside
Phosphorylase Deficiency: Engrafted Donor-Derived White Blood Cells Provide Enzyme
to Residual Enzyme-Deficient Recipient Cells /Vikramajit Singh ; Zellweger Spectrum
Disorder with Mild Phenotype Caused by PEX2 Gene Mutations /Andrea Mignarri, Claudia
Vinciguerra, Antonio Giorgio, Sacha Ferdinandusse and Hans Waterham, et al. ; D-Serine
Influences Synaptogenesis in a P19 Cell Model /Sabine A. Fuchs, Martin W. Roeleveld,
Leo W.J. Klomp, Ruud Berger and Tom J. de Koning ; Mutation Profile of the MUT Gene
in Chinese Methylmalonic Aciduria Patients /Mei-Ying Liu, Tze-Tze Liu, Yang-Ling Yang,
Ying-Chen Chang and Ya-Ling Fan, et al. ; Cardiac Pathology in Glycogen Storage Disease
Type III /S.L. Austin, A.D. Proia, M.J. Spencer-Manzon, J. Butany and S.B. Wechsler,
et al. ; Nutritional and Pharmacological Management during Chemotherapy in a Patient
with Propionic Acidaemia and Rhabdomyosarcoma Botryoides /E Marti
Problems of Adults with a Mitochondrial Disease ; The Patients' Perspective: Focus
on Loss /Greet Noorda, Theo van Achterberg, Truus van der Hooft, Jan Smeitink and
Lisette Schoonhoven, et al. ; The Proline/Citrulline Ratio as a Biomarker for OAT
Deficiency in Early Infancy /Monique G.M. de Sain-van der Velden, Piero Rinaldo, Bert
Elvers, Mick Henderson and John H Walter, et al. ; Homocysteine and Erythrocyte Sedimentation
Rate Correlate with Cerebrovascular Disease in Fabry Disease /R. Cheung, D.O. Sillence
and M.C. Tchan ; Methionine Adenosyltransferase I/III Deficiency in Portugal: High
Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands /E Martins,
A Marcão, A Bandeira, H Fonseca and C Nogueira, et al. ; Lethal Undiagnosed Very Long-Chain
Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn
Screening /U. Spiekerkoetter, M. Mueller, M. Sturm, M. Hofmann and D.T. Schneider
; Newborn Screening for Lysosomal Storage Disorde
