Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by S. Vuillaumier-Barrot
A Case of Fatal Type I Congenital Disorders of Glycosylation (CDG I) Associated With Low Dehydrodolichol Diphosphate Synthase (DHDDS) Activity
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Related publications
Anesthetic Management of a Boy With Congenital Disorder of Glycosylation (CDG) I-X
International Journal of Clinical Medicine
Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
Nutrients
Nutrition
Food Science
Dietetics
Congenital Disorders of Glycosylation. Part I. Defects of Protein N-Glycosylation.
Acta Biochimica Polonica
Biochemistry
Genetics
Molecular Biology
Clinical and Molecular Features of Three Patients With Congenital Disorders of Glycosylation Type Ih (CDG-Ih) (ALG8 Deficiency)
Journal of Medical Genetics
Genetics
PO-0827 Conotruncal Heart Defect in a Patient With Congenital Disorder of Glycosylation Type I
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Carbohydrate Deficient Glycoprotein (CDG) Syndrome Type I.
Journal of Medical Genetics
Genetics
Congenital Disorder of Glycosylation Type Ia (CDG-Ia): Phenotypic Spectrum of the R141h/F119l Genotype
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Congenital Hyperreninemic Hypoaldosteronism Due to Aldosterone Synthase Deficiency Type I in a Portuguese Patient – Case Report and Review of Literature
Archives of endocrinology and metabolism
Endocrinology
Metabolism
Diabetes
