A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic

Maria Veiga‐da‐Cunha, Isabelle Gerin, Yuan‐Tsong Chen, +11

The American Journal of Human Genetics

Genetic DisorderMedicineGeneticsMolecular BiologyMolecular Genetics +6

Rodent and Human Acid α‐Glucosidase

Thierry de Barsy, P. C. Jacquemin, Pierre Devos, +1

European Journal of Biochemistry

Lysosomal Storage DiseaseGlycobiologyImmunologyEnzymatic ModificationMice Liver +14

Myopathy and phosphorylase kinase deficiency caused by a mutation in thePHKA1 gene

Wim Wuyts, Edwin Reyniers, C. Ceuterick, +3

American Journal of Medical Genetics Part A

GeneticsThephka1 GenePathologyMolecular GeneticsDisease Gene Identification +16

The effect of glucose on the conversion of muscle phosphorylase a into b or b′

Thierry de Barsy, Willy Stalmans, Monique Laloux, +2

Biochemical and Biophysical Research Communications

Energy MetabolismMolecular PhysiologyBiochemistrySkeletal MuscleBioenergetics +7

Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies

R. Mercelis, Jean‐Jacques Martin, Thierry de Barsy, +1

Journal of Neurology

Muscle FunctionKinesiologyMuscle InjurySkeletal MuscleExercise +9

Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency

Ingrid Handig, Erna Dams, Franco Taroni, +3

Human Genetics

BiologyInbred FamilyAllelic VariantMendelian DisorderGenetic Disorder +9

Retarded and Aberrant Splicings Caused by Single Exon Mutation in a Phosphoglycerate Kinase Variant

Tomomi Ookawara, Vibha Davé, P J Willems, +4

Archives of Biochemistry and Biophysics

Somatic VariantGenetic DisorderNatural SciencesGeneticsMolecular Biology +9

MODELLING THE MECHANICAL AND HISTOLOGICAL PROPERTIES OF CARROT TISSUE DURING COOKING IN RELATION TO TEXTURE AND CELL WALL CHANGES

Bert Verlinden, Thierry de Barsy, Josse De Baerdemaeker, +1

Journal of Texture Studies

EngineeringFood PhysicMechanicsRupture MechanismBiomechanics +10

Moyamoya disease and Down syndrome: case report and review of the literature.

V. de Borchgrave, Françoise Saussu, A. Depré, +1

PubMed

Monitoring post-harvest quality of <i>Granny Smith</i> apple under simulated shelf-life conditions: destructive, non-destructive and analytical measurements

Kang Tu, Josse De Baerdemaeker, R. Deltour, +1

International Journal of Food Science & Technology