Per ulteriori informazioni selezionare i riferimenti di interesse.
Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2
GENE
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling
AMERICAN JOURNAL OF MEDICAL GENETICS
Diversity of congenital disorders of glycosylation
LANCET
High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)
AMERICAN JOURNAL OF HUMAN GENETICS
Enhanced internal dynamics of a membrane transport protein during substrate translocation
PROTEIN SCIENCE
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
GLYCOBIOLOGY
Chromatic-index critical multigraphs of order 20
JOURNAL OF GRAPH THEORY
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
ANNALS OF NEUROLOGY
Reliability of DMSA for the diagnosis of renal parenchymal abnormality in children
EUROPEAN JOURNAL OF NUCLEAR MEDICINE
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
HUMAN GENETICS
Congenital Disorders of Glycosylation (CDG): A rapidly expanding group of neurometabolic disorders
NEUROPEDIATRICS
Bounds for the independence number of critical graphs
BULLETIN OF THE LONDON MATHEMATICAL SOCIETY
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
JOURNAL OF CLINICAL INVESTIGATION
Phosphomannomutase deficiency: The molecular basis of the classical Jaekensyndrome (CDGS type Ia)
MOLECULAR GENETICS AND METABOLISM
beta-trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
The crustal structure beneath the Central Andean forearc and magmatic arc as derived from seismic studies - the PISCO 94 experiment in northern Chile(21 degrees-23 degrees S)
JOURNAL OF SOUTH AMERICAN EARTH SCIENCES
Chromatic-index-critical graphs of even order
JOURNAL OF GRAPH THEORY
Role of heteromer formation in GABA(B) receptor function
SCIENCE
Seismic reflection image revealing offset of Andean subduction-zone earthquake locations into oceanic mantle
NATURE
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2
FEBS LETTERS
PREGNANCY IN A WOMAN WITH MAPLE-SYRUP-URINE-DISEASE
Journal of inherited metabolic disease
Lipid composition of Spodoptera frugiperda (Sf9) and Trichoplusia ni (Tn) insect cells used for baculovirus infection
FEBS LETTERS
NEONATAL LETHAL MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY MIMICKING A RESPIRATORY-CHAIN DEFECT
Journal of inherited metabolic disease
FAST SPIN-ECHO MR-IMAGING OF THE PEDIATRIC BRAIN
Pediatric radiology
GLYCOSYLATION, PALMITOYLATION, AND LOCALIZATION OF THE HUMAN D-2S RECEPTOR IN BACULOVIRUS-INFECTED INSECT CELLS
Biochemistry
IN-VIVO RECONSTITUTION OF DOPAMINE D-2S RECEPTOR-MEDIATED G-PROTEIN ACTIVATION IN BACULOVIRUS-INFECTED INSECT CELLS - PREFERRED COUPLING TOG(I1) VERSUS G(I2)
Biochemistry
STOICHIOMETRY AND STRUCTURE OF POLYELECTROLYTE COMPLEX PARTICLES IN DILUTED SOLUTIONS
Berichte der Bunsengesellschaft fur Physikalische Chemie
GANGLION NEUROMA OF THE BRAIN-STEM WITH D ISSEMINATED LEPTOMENINGEAL EXTENSION - MR TOMOGRAPHIC FOLLOW-UP
RoFo. Fortschritte auf dem Gebiete der Rontgenstrahlen und der neuenbildgebenden Verfahren
EXPRESSION OF THE HUMAN D-2S DOPAMINE-RECEPTOR IN THE YEASTS SACCHAROMYCES-CEREVISIAE AND SCHIZOSACCHAROMYCES-POMBE - A COMPARATIVE-STUDY
FEBS letters
HETEROLOGOUS EXPRESSION OF THE HUMAN D-2S DOPAMINE-RECEPTOR IN PROTEASE-DEFICIENT SACCHAROMYCES-CEREVISIAE STRAINS
European journal of biochemistry
CONSTITUTIVE EXPRESSION OF THE HUMAN D-2S-DOPAMINE RECEPTOR IN THE UNICELLULAR YEAST SACCHAROMYCES-CEREVISIAE
Biochimica et biophysica acta. Biomembranes
SINGLE-PHOTON EMISSION COMPUTED-TOMOGRAPHY (SPECT) MEASURES OF BRAIN-FUNCTION IN SCHIZOPHRENIA
Australian and New Zealand Journal of Psychiatry
IMMUNOGLOBULIN THERAPY IN PATIENTS FOLLOW ING AUTOLOGOUS AND ALLOGENEIC BONE-MARROW TRANSPLANTATION
Infusionstherapie und Transfusionsmedizin
THE PSI EXPERIMENTS ON MUON-CATALYZED PT FUSION
Hyperfine interactions
MUON-CATALYZED PT FUSION
Physical review letters