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Journal of Investigative Medicine High Impact Case Reports|May 31, 2022
Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry SyndromeChristina G Tise, Dena R Matalon, Melanie A Manning, et al.
Biochemical Medicine and Metabolic Biology|August 1, 1992
Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activityP S Hart, B O Barnstein, J R Secor McVoy, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 1, 1973
Cystic fibrosis: fractionation of fibroblast media demonstrating ciliary inhibitionB H Bowman, D R Barnett, R Matalon, et al.
American Journal of Human Genetics|November 1, 1975
Kniest syndrome with dominant inheritance and mucopolysacchariduriaH J Kim, N G Beratis, P Brill, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|January 1, 1990
Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A)M Iwamoto, Y Nawa, I H Maumenee, et al.
Acta Paediatrica Japonica : Overseas Edition|April 1, 1996
Gene therapy for metachromatic leukodystrophyT Ohashi, K Watabe, Y Sato, et al.
European Journal of Pediatrics|July 1, 1996
Outcome implications of the International Maternal Phenylketonuria Collaborative Study (MPKUCS): 1994R Koch, H Levy, W Hanley, et al.
Molecular Genetics and Metabolism Reports|October 20, 2025
Carbonic anhydrase VA deficiency due to a novel CA5A variantLaura Keehan, Elizabeth Null, Lekha Chilakamarri, et al.
Pediatrics|December 1, 1984
Biopterin synthesis defects: problems in diagnosisG Hoganson, S Berlow, S Kaufman, et al.
American Journal of Medical Genetics. Part A|January 12, 2022
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variantJose Andres Morales, Irene Valenzuela, Ivon Cuscó, et al.
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