P Guibaud

Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification

William S. Sly, Michael P. Whyte, Vasantha Sundaram et al. · New England Journal of Medicine · 1985 · 328 citations

Life Sciences, Biochemistry, Genetics +6

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

G Souillet, Nathalie Guffon, I Maire et al. · Bone Marrow Transplantation · 2003 · 210 citations

Medicine, Hematology, Surgery +12

Follow-up of nine patients with Hurler syndrome after bone marrow transplantation

Nathalie Guffon, G Souillet, I Maire et al. · The Journal of Pediatrics · 1998 · 144 citations

Medicine, Hematology, Bone Grafting +12

A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries

Peiyi Hu, Donna E. Roth, Laura A. Skaggs et al. · Human Mutation · 1992 · 76 citations

Life Sciences, Genetics, Molecular Genetics +16

A new neonatal case of<i>N</i>‐acetylglutamate synthase deficiency treated by carbamylglutamate

Nathalie Guffon, Christine Vianey‐Saban, J Bourgeois et al. · Journal of Inherited Metabolic Disease · 1994 · 58 citations

Life Sciences, Biochemistry, Pediatrics +12