Concepedia

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

Carlo Dionisi‐Vici, Barbara Garavaglia, Alberto Burlina, Enrico Bertini, Isora Saponara, Gaetano Sabetta, Franco Taroni

The Journal of Pediatrics · 1996 · 62 citations · 10 references

DOI

Concepts

References

10

Clinical Disorders of Fluid and Electrolyte Metabolism

The Medical Journal of Australia · 1964 · 396 citations

, , +17

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

Bridget Wilcken, Kit‐wah Leung, Jeremy Hammond et al. · The Lancet · 1993 · 220 citations

, , +10

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

Franco Taroni, Elisabetta Verderio, F. Dworzak et al. · Nature Genetics · 1993 · 202 citations

, , +12

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein

Lodewijk IJlst, R. J. A. Wanders, S. Ushikubo et al. · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · 1994 · 159 citations

, , +17

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

Ronald J. A. Wanders, Lodewijk IJlst, F Poggi et al. · Biochemical and Biophysical Research Communications · 1992 · 154 citations

, , +16