Showing results (81-90 of 1,261) with videos related to
Sort By:
Pageof 127
JIMD Reports|February 23, 2013
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic ActivityCosima Rhein, Julia Naumann, Christiane Mühle, et al.JIMD Reports|February 23, 2013
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel PatientsM Dercksen, A C Crutchley, E M Honey, et al.JIMD Reports|February 23, 2013
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn PeriodDaniel Palanca, Angels Garcia-Cazorla, Jessica Ortiz, et al.JIMD Reports|February 23, 2013
Association of dopamine receptor gene polymorphisms with the clinical course of Wilson diseaseT Litwin, G Gromadzka, J Samochowiec, et al.JIMD Reports|February 23, 2013
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165R Zeevaert, F de Zegher, L Sturiale, et al.JIMD Reports|February 23, 2013
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48SMaja Djordjevic, Kristel Klaassen, Adrijan Sarajlija, et al.JIMD Reports|February 23, 2013
Ceftriaxone for Alexander's Disease: A Four-Year Follow-UpGianPietro Sechi, Isabella Ceccherini, Tiziana Bachetti, et al.JIMD Reports|February 23, 2013
Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 GeneTalita E R Adelino, Gustavo G Martins, Aretta A A Gomes, et al.JIMD Reports|February 23, 2013
Partial Pyridoxine Responsiveness in PNPO DeficiencyPhillip L Pearl, Keith Hyland, J Chiles, et al.JIMD Reports|February 23, 2013
Chitotriosidase deficiency: a mutation update in an african populationSilke Arndt, Angela Hobbs, Iain Sinclaire, et al.Pageof 127