Journal of Inherited Metabolic Disease

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Also Known As

Inherited metabolic disease, JIMD

Publications

181.2K

Citations

473

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Journal of Inherited Metabolic Disease is a journal.

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Journal of Inherited Metabolic Disease

Publications

181.2K

Citations

Showing yearly statistics from 2000-2026.

Page 1

	Year	Citations
Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism David S. Millington, Naoki Kodo, Daniel L. Norwood, Journal of Inherited Metabolic Disease	1990	573
Long‐term prognosis in galactosaemia: Results of a survey of 350 cases Darrel Waggoner, Neil R.M. Buist, George N. Donnell Journal of Inherited Metabolic Disease	1989	530
Cumulative incidence rates of the mucopolysaccharidoses in Germany Frank Baehner, C. Schmiedeskamp, Frank Krummenauer, Journal of Inherited Metabolic Disease	2005	385
Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry Christine M. Eng, Janice M. Fletcher, William R. Wilcox, Journal of Inherited Metabolic Disease	2007	381
International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease Adriana M. Montaño, Shunji Tomatsu, Gary S. Gottesman, Journal of Inherited Metabolic Disease	2007	357
The later development of the brain and its vulnerability John Dobbing Journal of Inherited Metabolic Disease NeuropsychologyBrain FunctionBrain DevelopmentDevelopmental Cognitive NeuroscienceNeuroanatomy	1982	353
An international classification of inherited metabolic disorders (<scp>ICIMD</scp>) Carlos R. Ferreira, Shamima Rahman, Markus A. Keller, Journal of Inherited Metabolic Disease	2020	321
The incidence of inherited porphyrias in Europe George H. Elder, Pauline Harper, Michael N. Badminton, Journal of Inherited Metabolic Disease	2012	287
Storage policies and use of the Danish Newborn Screening Biobank B Nørgaard‐Pedersen, David M. Hougaard Journal of Inherited Metabolic Disease	2007	276
Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes Catharina Whybra, C. Kampmann, I. Willers, Journal of Inherited Metabolic Disease	2001	274

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