C. Dorche

Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Songya Pang, M A Wallace, L F Hofman et al. · The Journal of Urology · 1988 · 398 citations

K. Fujieda, Human Growth, Renal Pathology +22

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 · 208 citations

Transplantation, Marrow Transplantation, Bone Marrow Failure +7

Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

L F Hofman, C. Dorche, R.H. Dobbins et al. · PubMed · 1988 · 187 citations

Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

Carla Minutti, Jean M. Lacey, Mark J Magera et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 150 citations

Gynecology, Blood Spots, Dermatology +20

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

Jochen Reiss, Nadine Cohen, C. Dorche et al. · Nature Genetics · 1998 · 114 citations

Polycistronic Nuclear Gene, Genetic Disorder, Natural Sciences +8