P Guibaud - Concepedia

Author

P Guibaud

Hôpital Debrousse

Also Known As

P Guibaud, P. GUIBAUD, P. Guibaud, Pierre Guibaud

101

Publications

2.1K

Citations

H-Index

Concepts

All Affiliations

Hôpital Debrousse Hôpital Edouard Herriot Hôpital des Enfants Centre National de la Recherche Scientifique University of Zurich

About

P Guibaud is an author at Hôpital Debrousse specializing in medicine, inherited metabolic disease, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	14	680
2	Natural Sciences	3	3	102
3	Biochemistry	3	3	115
4	Biology	1	1	29
5	Biomolecular Engineering	1	1	17

P Guibaud

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
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, New England Journal of Medicine	1985	324
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources G Souillet, Nathalie Guffon, I Maire, Bone Marrow Transplantation TransplantationMarrow TransplantationBone Marrow FailureStem Cell TransplantationHematology	2003	208
Follow-up of nine patients with Hurler syndrome after bone marrow transplantation Nathalie Guffon, G Souillet, I Maire, The Journal of Pediatrics TransplantationMarrow TransplantationBone Marrow FailureStem Cell TransplantationHematology	1998	143
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, Human Mutation	1992	76
A new neonatal case of<i>N</i>‐acetylglutamate synthase deficiency treated by carbamylglutamate Nathalie Guffon, Christine Vianey‐Saban, J Bourgeois, Journal of Inherited Metabolic Disease	1994	57
Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency by steroid analysis in the amniotic fluid of mid‐pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH Maguelone G. Forest, Hervé Betuel, P. Couillin, Prenatal Diagnosis	1981	49
2‐Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case Nathalie Guffon, Casilda López-Mediavilla, R. Dumoulin, Journal of Inherited Metabolic Disease	1993	44
Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry Christine Vianey‐Saban, Nathalie Guffon, F. Delolne, Journal of Inherited Metabolic Disease Inborn ErrorsMetabolic DisorderBiochemistryMedicineBioanalysis	1997	42
Mutations in the pterin-4α-carbinolamine dehydratase ( PCBD ) gene cause a benign form of hyperphenylalaninemia Beat Thöny, F. Neuheiser, L. Kierat, Human Genetics Benign FormBiochemistryNatural SciencesGeneticsInherited Metabolic Disease	1998	38
7-Substituted pterins. A new class of mammalian pteridines. H.‐Ch. Curtius, A. Matasović, Gabriele Schoedon, Journal of Biological Chemistry Novel PteridinesMedicinal ChemistryBiochemistryMedicine7-Substituted Pterins	1990	35

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