P. Guibaud

发表

7-Substituted pterins. A new class of mammalian pteridines.

N. Blau, T. Kuster, G. Schoedon, 1990, The Journal of biological chemistry.

Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency

M. Rolland, G. Forzy, C. Dorche, 1988, European Journal of Pediatrics.

Diffuse leiomyomatosis in Alport syndrome.

P. Cochat, P. Guibaud, R. García Torres, 1988, The Journal of pediatrics.

Effect of polyethylene glycol-modified adenosine deaminase (PEG-ADA) therapy in two ADA-deficient children: measurement of erythrocyte deoxyadenosine triphosphate as a useful tool.

R. Boulieu, C. Bory, G. Souillet, 1991, Advances in experimental medicine and biology.

A 13‐bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient

D. Bozon, M. Rolland, P. Divry, 1995, Human mutation.

Type 3 Gaucher Disease: Clinical and Biological Heterogeneity

I. Maire, P. Guibaud, 1988 .

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry

P. Divry, C. Vianey‐Saban, N. Guffon, 1997, Journal of Inherited Metabolic Disease.

Carnitine metabolism in early stages of Duchenne muscular dystrophy.

D. Eichenberger, R. Got, P. Guibaud, 1982, Clinica chimica acta; international journal of clinical chemistry.

[Comparative effects of 25-hydroxycholecalciferol and vitamin D in the treatment of hypocalcemia caused by D-avitaminosis in children].

A. Frédérich, P. Guibaud, M. David, 1974, Therapie.

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

N. Guffon, I. Maire, G. Souillet, 1998, The Journal of pediatrics.

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

Y. Bertrand, Y. Bertrand, J. Bérard, 2003, Bone Marrow Transplantation.

Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

M. Durán, N. Blau, J. Ayling, 1998, Human Genetics.

[Clinical and anatomical case of an aortic aneurysm in the course of Bourneville's tuberous sclerosis].

R. Loire, B. Lauras, P. Guibaud, 1971, Archives francaises de pediatrie.

[Abdominal aorta aneurysm during Bourneville's tuberous sclerosis].

P. Mollard, F. Freycon, P. Guibaud, 1971, Pediatrie.

[Hereditary hyperphosphatasia].

P. Guibaud, 1970, Pediatrie.

[Biotidinase deficiency: a disease with neurologic and cutaneous expression susceptible to biotin].

M. Rolland, P. Divry, J. Langue, 1989, Pediatrie.

Pterin Chemistry. Part 92.. Loading experiments with 6α,β-tetrahydro-L-[3′-2H1] biopterin†

M. Rolland, M. Blaskovics, H. Curtius, 1992 .

Farber disease: an ultrastructural study

C. Dumontel, C. Girod, P. Guibaud, 1992, Virchows Archiv A.

A new neonatal case ofN-acetylglutamate synthase deficiency treated by carbamylglutamate

D. Rabier, J. Colombo, N. Guffon, 1995, Journal of Inherited Metabolic Disease.

[Long-term course of hepatic glycogenosis. A retrospective study of 76 cases].

P. Labrune, M. Odiévre, L. de Parscau, 1988, Archives francaises de pediatrie.

Glycogen storage disease and inflammatory bowel disease.

R. Gonthier, J. Dumollard, H. Rousset, 1989, The Journal of pediatrics.

Osteocraniostenosis.

A. Verloes, M. le Merrer, P. Maroteaux, 1994, Journal of medical genetics.

Carpal tunnel syndrome in Mucopolysaccharidoses. A report of four cases in child.

P. Brunet, C. Vial, J. Couturier, 1994, Electromyography and clinical neurophysiology.

[Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship].

P. Guibaud, F. Larbre, M. Freycon, 1972, Archives francaises de pediatrie.

Renal carcinoma in a patient with glycogen storage disease Ib receiving long-term granulocyte colony-stimulating factor therapy.

Y. Bertrand, J. Donadieu, C. Pondarré, 2000, Journal of pediatric hematology/oncology.

[Early infantile, cholestatic, rapidly-fatal form of type C sphingomyelinosis. 2 cases].

R. Rousson, M. Vanier, P. Guibaud, 1979, Pediatrie.

[The Mohr syndrome (orofaciodigital syndrome type II). 1 familial case].

J. Cotton, P. Guibaud, R. Gardet, 1979, Pediatrie.

Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation

N. Guffon, I. Maire, C. Dorche, 1995, Journal of Inherited Metabolic Disease.

Prenatal Diagnosis of Cystic Fibrosis: Experience of Two Complementary Methods

D. Bozon, I. Maire, R. Gilly, 1989, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material

M. Rolland, P. Divry, E. Christensen, 1986, European Journal of Pediatrics.

[Hypertrophic kidneys in utero and neonatal renal failure caused by diffuse mesangial sclerosis].

J. Bourgeois, M. Bethenod, B. Parchoux, 1988, Pediatrie.

Long term outcome of organic acidurias: Survey of 105 French cases (1967–1983)

R. Rousson, P. Guibaud, 1984, Journal of Inherited Metabolic Disease.

[Heterogeneity of glycogenosis type VI. Study of leukocyte phosphorylase activity in 2 families].

P. Guibaud, M. Mathieu, 1972, Archives francaises de pediatrie.

β-Glucuronidase deficiency: Enzyme studies in an affected family and prenatal diagnosis

I. Maire, P. Guibaud, M. Mathieu, 1979, Journal of Inherited Metabolic Disease.

2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case

P. Divry, C. Godinot, N. Guffon, 1993, Journal of Inherited Metabolic Disease.

[Persistent hyperplastic primary vitreous syndrome in a girl with Aicardi syndrome].

P. Denis, H. Masset, F. Béby, 2000, Journal francais d'ophtalmologie.

[Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].

P. Cochat, P. Guibaud, I. Loras-Duclaux, 1987, Pediatrie.

[Protein intolerance with lysinuria. Value of orotic aciduria in adjusting treatment with citrulline].

P. Divry, L. de Parscau, P. Guibaud, 1988, Archives francaises de pediatrie.