Notice bibliographique
- Notice
Type(s) de contenu et mode(s) de consultation : Texte noté : électronique
Titre(s) : JIMD reports-- Case and research reports. 2012/6 [Texte électronique] / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors
Publication : Berlin ; New York : Springer, cop. 2013
Description matérielle : 1 online resource (1 texte électronique (126 p.))
Collection : JIMD Reports ; 9
Note(s) : Titre de l'écran-titre (visionné le 12 mars 2013)
Autre(s) auteur(s) : Zschocke, Johannes (1964-....). Fonction indéterminée
Gibson, K. Michael. Fonction indéterminée
Brown, Garry. Fonction indéterminée
Morava, Eva. 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 9783642355189
Identifiant de la notice : ark:/12148/cb44706225k
Notice n° :
FRBNF44706225
(notice reprise d'un réservoir extérieur)
Table des matières : Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency
/Elsebet Ostergaard, Morten Duno ; Novel Mutations in the Glucocerebrosidase Gene
of Brazilian Patients with Gaucher Disease /Marina Siebert, Hugo Bock ; Prevalence
and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after
Haematopoietic Stem Cell Transplantation /F.J. Stoop, M.C. Kruyt ; Nutritional Changes
and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin
(BH₄) /A.G. Thiele, J.F. Weigel, B. Ziesch ; Effects of Switching from Agalsidase
Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease /A. Pisani, L.
Spinelli, B. Visciano ; Molecular Genetics and Genotype-Based Estimation of BH₄-Responsiveness
in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S /Maja Djordjevic,
Kristel Klaassen
Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa
Patients /Riffat Aslam, Annelotte C.M. van Bommel ; Ceftriaxone for Alexander's Disease:
A Four-Year Follow-Up /GianPietro Sechi, Isabella Ceccherini ; Identification and
Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
/N. Ramanathan, M. Ahmed, E. Raffan ; The Mild Form of Menkes Disease: A 34 Year Progress
Report on the Original Case /M.C. Tchan, B. Wilcken, J. Christodoulou ; Biochemical
and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in
Minas Gerais, Brazil: New Mutation in CHIT1 Gene /Talita E R Adelino, Gustavo G Martins
; A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine
/A. Benarrosh, R. Garnotel, A. Henry ; Amino Acid Profiles in Patients with Urea Cycle
Disorders at Admission to Hospital due to Metabolic Decompensation /S. Rodney, A.
Boneh
Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation
of Mitochondrial tRNASer(UCN) and Review of Published Cases /Katalin Komlósi, Anita
Maász, Péter Kisfali ; Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient
with Metachromatic Leukodystrophy /Gerarda Cappuccio, Nicola Brunetti-Pierri ; Considering
Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process /E.J. Langereis,
I.E.T. van den Berg ; Case Report of Argininemia: The Utility of the Arginine/Ornithine
Ratio for Newborn Screening (NBS) /Allison Jay, Mary Seeterlin, Eleanor Stanley ;
Leptin Levels in Children and Adults with Classic Galactosaemia /Ina Knerr, Karen
P. Coss, Peter P. Doran ; CRIM-Negative Pompe Disease Patients with Satisfactory Clinical
Outcomes on Enzyme Replacement Therapy /Hamoud H. Al Khallaf, Jennifer Propst ; Partial
Pyridoxine Responsiveness in PNPO Deficiency /Phillip L. Pearl, Keith Hyland, J Chiles
