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Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency
We present a neonate with molybdenum cofactor deficiency and describe diffusion-weighted brain MRI
Stence NV
,
Coughlin CR 2nd
,
Fenton LZ
,
Thomas JA
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DOI
Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency
We present a patient who died as a result of fatal hypoglycemia at 38 h of life before diagnosis of VLCADD could be established by newborn screening
Coughlin CR 2nd
,
Ficicioglu C
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DOI
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
We report a case of PDHA1 mosaicism in a male patient who had a milder phenotype
Coughlin CR 2nd
,
Krantz ID
,
Schmitt ES
,
Zhang S
,
Wong LJ
,
Kerr DS
,
Ganesh J
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DOI
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry
We report the first infanct with VLCADD missed by newborn screening.
Ficicioglu C
,
Coughlin CR 2nd
,
Bennett MJ
,
Yudkoff M
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DOI
Child neurology: a case illustrating the role of imaging in evaluation of sudden infant death
Case report describing brain imaging in a patient with mitochondrial disease resulting in sudden unexplained death
Kranick SM
,
Ganesh J
,
Coughlin CR 2nd
,
Licht DJ
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DOI
Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children
We report the use of penicillamine in the treatment of cystine stone formation in a cohort of patietns with cystinuria
DeBerardinis RJ
,
Coughlin CR 2nd
,
Kaplan P
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DOI
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