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Pediatrics|July 14, 2010
Challenges and pitfalls in the management of phenylketonuriaFrançois Feillet, Francjan J van Spronsen, Anita MacDonald, et al.Journal of Inherited Metabolic Disease|April 6, 2026
A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSFStine Christ, Julia Rossmann, Sylvia Richter, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 1, 1997
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severityB Hoppe, C J Danpure, G Rumsby, et al.The Pediatric Infectious Disease Journal|May 15, 2015
The Spectrum of Nocardia Lung Disease in Cystic FibrosisMeir Mei-Zahav, Galit Livnat, Lea Bentur, et al.Journal of Clinical Medicine|June 26, 2025
Elevated Immunoglobulin G as a Predictor of Progression to Severe Lung Disease in Cystic Fibrosis: A Longitudinal Cohort StudyOri Goldberg, Siwar Shekh-Yusuf, Miri Dotan, et al.Proceedings of the National Academy of Sciences of the United States of America|November 13, 2010
skNAC, a Smyd1-interacting transcription factor, is involved in cardiac development and skeletal muscle growth and regenerationChong Yon Park, Stephanie A Pierce, Morgan von Drehle, et al.Bone Marrow Transplantation|March 7, 1998
A second unrelated bone marrow transplant with an unrelated donor marrow: treatment of a patient with relapsed leukemiaN Basara, M Bischoff, I W Blau, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|May 3, 2003
Localized arteriole formation directly adjacent to the site of VEGF-induced angiogenesis in muscleMatthew L Springer, Clare R Ozawa, Andrea Banfi, et al.The Journal of Biological Chemistry|April 28, 1995
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiencyH Ichinose, T Ohye, Y Matsuda, et al.Journal of Toxicology and Environmental Health|December 1, 1977
Fate of silvex following oral administration to humansM W Sauerhoff, M B Chenoweth, R , Karbowski, et al.Pageof 236