Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan

Citrin and aralar1 are Ca2+‐stimulated aspartate/glutamate transporters in mitochondria

Luigi Palmieri, Beatriz Pardo, Francesco M. Lasorsa et al. · The EMBO Journal · 2001 · 509 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Keiko Kobayashi, David S. Sinasac, Mikio Iijima et al. · Nature Genetics · 1999 · 414 citations

Life Sciences, Genetics, Molecular Genetics +8

Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t(1;14)(p22;q32)

Quangeng Zhang, Reiner Siebert, Minhong Yan et al. · Nature Genetics · 1999 · 376 citations

Medicine, Genetics, Molecular Genetics +7

Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

Donald H. Chace, Steven L Hillman, Johan L.K. Van Hove et al. · Clinical Chemistry · 1997 · 284 citations · Full text

Life Sciences, Biochemistry, Clinical Biochemistry +14

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles

Mohamed S. Rashed, Martin P. Bucknall, Douglas Little et al. · Clinical Chemistry · 1997 · 274 citations · Full text

Life Sciences, Biochemistry, Mass Spectrometric Analysis +16