Meet the team
Research
Publications
Talks
Posts
Contact
Light
Dark
Automatic
2
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening
We identified a novel metabolite, 6-oxo-pipecolate (6-oxo-PIP), which accumulates in substantial amounts in blood, plasma, urine, and cerebral spinal fluid of individuals with PDE
Wempe MF
,
Kumar A
,
Kumar V
,
Choi YJ
,
Swanson MA
,
Friederich MW
,
Hyland K
,
Yue WW
,
Van Hove JLK
,
Coughlin CR 2nd
Cite
DOI
Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.
Considering ethical, legal, and social implications, and medical factors, CADRe developed and pilot tested two rubrics addressing consent for genetic testing and results disclosure.
Ormond KE
,
Hallquist MLG
,
Buchanan AH
,
Dondanville D
,
Cho MK
,
Smith M
,
Roche M
,
Brothers KB
,
Coughlin CR 2nd
,
Hercher L
,
Hudgins L
,
Jamal S
,
Levy HP
,
Raskin M
,
Stosic M
,
Uhlmann W
,
Wain KE
,
Currey E
,
Faucett WA
Cite
DOI
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
This report provides a comprehensive overview of known ALDH7A1 mutations that cause PDE, and suggests that PDE may be more common than initially estimated.
Coughlin CR 2nd
,
Swanson MA
,
Spector E
,
Meeks NJL
,
Kronquist KE
,
Aslamy M
,
Wempe MF
,
van Karnebeek CDM
,
Gospe SM Jr
,
Aziz VG
,
Tsai BP
,
Gao H
,
Nagy PL
,
Hyland K
,
van Dooren SJM
,
Salomons GS
,
Van Hove JLK
Cite
DOI
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium
We describe the 9-site N-carbamylglutamate Consortium (NCGC) with the goal to conduct two randomized double-blind, placebo-controlled trials of NCG in acute hyperammonemia of PA, MMA, CPSD and OTCD.
Ah Mew N
,
Cnaan A
,
McCarter R
,
Choi H
,
Glass P
,
Rice K
,
Scavo L
,
Gillespie CW
,
Diaz GA
,
Berry GT
,
Wong D
,
Konczal L
,
McCandless SE
,
Coughlin II CR
,
Weisfeld-Adams JD
,
Ficicioglu C
,
Yudkoff M
,
Enns GM
,
Lichter-Konecki U
,
Gallagher R
Cite
DOI
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
This article presents a boy with X-linked cobalamin deficiency (HCFC1) with increased cerebrospinal fluid glycine and methylmalonic acid and increased cerebrospinal fluid to plasma glycine ratio suggesting a brain hyperglycinemia
Scalais E
,
Osterheld E
,
Weitzel C
,
De Meirleir L
,
Mataigne F
,
Martens G
,
Shaikh TH
,
Coughlin CR 2nd
,
Yu HC
,
Swanson M
,
Friederich MW
,
Scharer G
,
Helbling D
,
Wendt-Andrae J
,
Van Hove JLK
Cite
DOI
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
We report that heterozygous UMPS-mutations can lead to mild and isolated orotic aciduria without clinical consequence.
Wortmann SB
,
Chen MA
,
Colombo R
,
Pontoglio A
,
Alhaddad B
,
Botto LD
,
Yuzyuk T
,
Coughlin CR
,
Descartes M
,
Grunewald S
,
Maranda B
,
Mills PB
,
Pitt J
,
Potente C
,
Rodenburg R
,
Kluijtmans LA
,
Sampath S
,
Pai EF
,
Wevers RA
,
Tiller GE
Cite
DOI
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly
This manuscript suggests mutations in NDUFB10 are a novel cause of complex I deficiency associated with a late stage assembly defect and emphasize the role of intermembrane space proteins for the efficient assembly of complex I.
Friederich MW
,
Erdogan AJ
,
Coughlin CR 2nd
,
Elos MT
,
Jiang H
,
O'Rourke CP
,
Lovell MA
,
Wartchow E
,
Gowan K
,
Chatfield KC
,
Chick WS
,
Spector EB
,
Van Hove JLK
Cite
DOI
Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt
Beard L
,
Wymore E
,
Fenton L
,
Coughlin CR
,
Weisfeld-Adams JD
DOI
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
The study’s purpose was to delineate the genetic mutations that cause classic nonketotic hyperglycinemia (NKH)
Coughlin CR 2nd
,
Swanson MA
,
Kronquist K
,
Acquaviva C
,
Hutchin T
,
Rodriguez-Pombo P
,
Vaisanen ML
,
Spector E
,
Creadon-Swindell G
,
Bras-Goldberg aM
,
Rahikkala E
,
Moilanen JS
,
Mahieu V
,
Matthijs G
,
Bravo-Alonso I
,
Perez-Cerda C
,
Ugarte M
,
Vianey-Saban C
,
Scharer GH
,
Van Hove JLK
Cite
DOI
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
We present a phenotypic spectrum of antiquitin deficiency based on a literature review (2006 to 2015) of reports (n = 49) describing the clinical presentation of confirmed patients (n > 200) and a further six patient vignettes.
van Karnebeek CD
,
Tiebout SA
,
Niermeijer J
,
Poll-The BT
,
Ghani A
,
Coughlin CR 2nd
,
Van Hove JL.
,
Richter JW
,
Christen HJ
,
Gallagher R
,
Hartmann H
,
Stockler-Ipsiroglu S
Cite
DOI
«
»
Cite
×