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Pyridoxine-dependent epilepsy: Current perspectives and questions for future research
This review discusses the advances in diagnosis and treatment for patients with pyridoxine-dependent epilepsy since the initial case description 70 years ago.
Coughlin CR 2nd
,
Gospe Jr SM
Cite
DOI
Association between lysine reduction therapies and cognitive outcomes in patients with pyridoxine-dependent epilepsy
In this international cohort study, we demonstrated that treatment with pyridoxine and lysine reduction therapy started in the first six months of life is associated with a significant increase in developmental test scores (21.9 points 95th CI 1.7 to 42.0)
Coughlin CR 2nd
,
Tseng LA
,
Bok LA
,
Hartmann H
,
Footitt E
,
Striano P
,
Tabarki BM
,
Lunsing RJ
,
Stockler-Ipsiroglu S
,
Gordon S
,
Van Hove JLK
,
Abdenur JE
,
Boyer M
,
Longo N
,
Andrews A
,
Janssen MC
,
van Wegberg A
,
Prasad C
,
Prasad AN
,
Lamb MM
,
Wijburg FA
,
Gospe Jr SM
,
van Karnebeek C
,
International PDE Consoritum
Cite
DOI
A case for newborn screening for pyridoxine-dependent epilepsy
This commentary argues that pyridoxine-dependent epilepsy (PDE-ALDH7A1) meets the classic criteria for newborn screening and should be considered for addition to current screening programs.
Coughlin CR 2nd
,
Tseng LA
,
van Karnebeek CDM
DOI
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes
This case series reports the clinical outcomes in 11 adults with PDE-ALDH7A1, which furthers our understanding of this treatable disorder.
Tseng LA
,
Teela L
,
Janssen MC
,
Bok LA
,
Willemsen MAAP
,
Neuteboom RF
,
Haverman L
,
Gospe SM Jr
,
Coughlin CR 2nd
,
van Karnebeek CDM
Cite
DOI
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
This case series describes the clinical outcome in 18 families with PDE-ALDH7A1 and demonstrates that early in life, even antenatal, treatment with pyridoxine is not sufficient for normal development.
Tseng LA
,
Abdenur JE
,
Andrews A
,
Aziz VG
,
Bok LA
,
Boyer M
,
Buhas D
,
Hartmann H
,
Footitt EJ
,
Gronborg S
,
Janssen MCH
,
Longo N
,
Lunsing RJ
,
MacKenzie AE
,
Wijburg FA
,
Gospe SM Jr
,
Coughlin CR 2nd
,
van Karnebeek CDM
Cite
DOI
Clinical Reasoning: Pediatric Seizures of Unknown Cause
These clinical observations highlight the importance of evaluating patients for PDE-ALDH7A1 in the setting of seizures of unknown origin with partial or no response to common anti-epileptic medication.
Tseng LA
,
Hoytema van Konijnenburg EM
,
Longo N
,
Andrews A
,
van Wegberg A
,
Coene KL
,
Coughlin CR 2nd
,
van Karnebeek CDM
Cite
DOI
Defining the critical components of informed consent for genetic testing.
The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used an expert consensus process to identify the core concepts essential to consent for clinical genetic testing.
Ormond KE
,
Borensztein MJ
,
Hallquist MLG
,
Buchanan AH
,
Faucett WA
,
Peay HL
,
Smith ME
,
Tricou EP
,
Uhlmann WR
,
Wain KE
,
Coughlin CR 2nd
Cite
DOI
Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases
We detail our approach to intravenous management for metabolic patients and its underlying rationale. This generally entails a combination of intravenous glucose and lipid as well as early introduction of protein and essential vitamins.
Kripps KA
,
Baker PR 2nd
,
Thomas JA
,
Skillman HE
,
Bernstein L
,
Gaughan S
,
Burns C
,
Coughlin CR 2nd
,
McCandless SE
,
Larson AA
,
Kochar A
,
Stillman CF
,
Wymore EM
,
Hendricks EG
,
Woontner M
,
Van Hove JLK
Cite
DOI
Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study
This article describes the cognitive and neurological features of a cohort of Dutch PDE-ALDH7A1 patients.
Strijker M
,
Tseng LA
,
van Avezaath LK
,
Oude Luttikhuis MAM
,
Ketelaar T
,
Coughlin CR 2nd
,
Coenen MA
,
van Spronsen FJ
,
Williams M
,
de Vries MC
,
Westerlaan HE
,
Bok LA
,
van Karnebeek CDM
,
Lunsing RJ
Cite
DOI
Application of a framework to guide genetic testing communication across clinical indications
The CADRe recommendations provide guidance for clinicians in determining the depth of pre- and post-test communication, strategically aligning the anticipated needs of patients with the starting communication approach
Hallquist MLG
,
Tricou EP
,
Ormond KE
,
Savatt JM
,
Coughlin CR 2nd
,
Faucett WA
,
Hercher L
,
Levy HP
,
O'Daniel JM
,
Peay HL
,
Stosic M
,
Smith M
,
Uhlmann WR
,
Wand H
,
Wain KE
,
Buchanan AH
Cite
DOI
Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation
In this study, we have used a high-throughput technique to genotype complex structural variation with a single molecule, long-range optical mapping approach.
Mostovoy Y
,
Yilmaz F
,
Chow SK
,
Chu C
,
Lin C
,
Geiger EA
,
Meeks NJL
,
Chatfield KC
,
Coughlin CR
,
Surti U
,
Kwok PY
,
Shaikh TH
Cite
DOI
Development and application of an ethical framework for pediatric metabolic and bariatric surgery evaluation
We have demonstrated the application of a novel, overarching framework to conduct the ethical evaluation of youth presenting for metabolic bariatric surgery.
Moore JM
,
Glover JJ
,
Jackson BM
,
Coughlin CR 2nd
,
Kelsey MM
,
Inge TH
,
Boles RE
Cite
DOI
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency
The PDE Consortium consensus guidelines consisting of recommendations for diagnosis, treatment, and follow-up of patients with PDE-ALDH7A1.
Coughlin CR 2nd
,
Tseng LA
,
Abdenur JE
,
Ashmore C
,
Boemer F
,
Bok LA
,
Boyer M
,
Buhas D
,
Clayton PT
,
Das A
,
Dekker H
,
Evangeliou A
,
Feillet F
,
Footitt EJ
,
Gospe SM Jr
,
Hartmann H
,
Kara M
,
Kristensen E
,
Lee J
,
Lilje R
,
Longo N
,
Lunsing RJ
,
Mills P
,
Papadopoulou MT
,
Pearl PL
,
Piazzon F
,
Plecko B
,
Saini AG
,
Santra S
,
Sjarif DR
,
Stockler-Ipsiroglu S
,
Striano P
,
Van Hove JLK
,
Verhoeven-Duif NM
,
Wijburg FA
,
Zuberi SM
,
van Karnebeek CDM
Cite
DOI
Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey
A 22-question survey on the nutrition management of GA-1 was developed with the goal of understanding approaches to diet management for patients identified by newborn screening under age six years compared to management after diet liberalization, as well as to gain insight into how clinicians define diet liberalization.
Bernstein L
,
Coughlin CR
,
Drumm M
,
Yannicelli S
,
Rohr F
Cite
DOI
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
SQOR dysfunction can result in hydrogen sulfide accumulation, which inhibits complex IV resulting in energy failure and represents a new cause of Leigh disease.
Friederich MW
,
Elias AF
,
Kuster A
,
Laugwitz L
,
Larson AA
,
Landry AP
,
Ellwood-Digel L
,
Mirsky DM
,
Dimmock D
,
Haven J
,
Jiang H
,
MacLean KN
,
Styren K
,
Schoof J
,
Goujon L
,
Lefrancois T
,
Friederich M
,
Coughlin CR 2nd
,
Banerjee R
,
Haack TB
,
Van Hove JLK
Cite
DOI
Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish
To understand the mechanisms by which GABRA1 regulates brain development, we developed a zebrafish model of gabra1 deficiency. Collectively, these results represent a functional approach to understand the mechanisms by which loss-of-function alleles cause disease.
Reyes-Nava NG
,
Yu HC
,
Coughlin CR 2nd
,
Shaikh TH
,
Quintana AM
Cite
DOI
Developing interactions with industry in rare diseases: lessons learned and continuing challenges
We describe the UCDC experience and the bases for evaluating partnerships with such private entities. We review early industry interactions, the development of policies and procedures, and describe the establishment of an Industry Relations Committee, including guiding principles.
Berry SA
,
Coughlin CR 2nd
,
McCandless S
,
McCarter R
,
Seminara J
,
Yudkoff M
Cite
DOI
Genetic Testing: Consent and Result Disclosure for Primary Care Providers.
This article provides guidance about the recommended level of involvement of PCPs based on the test indication, test complexity, disorder management, and the potential for psychosocial sequela.
Faucett WA
,
Peay H
,
Coughlin CR 2nd
Cite
DOI
The 22q11 low copy repeats are characterized by unprecedented size and structural variability
Using fiber FISH and Bionano optical mapping, we assembled LCR22 alleles in 187 cell lines. Our analysis uncovered an unprecedented level of variation in LCR22s, including LCR22A alleles ranging in size from 250 to 2000 kb. Further, the incidence of various LCR22 alleles varied within different populations.
Demaerel W
,
Mostovoy Y
,
Yilmaz F
,
Vervoort L
,
Pastor S
,
Hestand MS
,
Swillen A
,
Vergaelen E
,
Geiger EA
,
Coughlin CR
,
Chow SK
,
McDonald-McGinn D
,
Morrow B
,
Kwok PY
,
Xiao M
,
Emanuel BS
,
Shaikh TH
,
Vermeesch JR
Cite
DOI
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
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype
In a retrospective cross-sectional study, we reviewed 38 MRI studies from 24 molecularly proven NKH patients, and 2 transient NKH patients.
Stence NV
,
Fenton LZ
,
Levek C
,
Tong S
,
Coughlin CR 2nd
,
Hennermann JB
,
Wortmann SB
,
Van Hove JLK
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
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
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
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
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
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
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy
We described a severe cardiac phenotype caused by mutations in TMEM87B.
Yu HC
,
Coughlin CR
,
Geiger EA
,
Salvador BJ
,
Elias ER
,
Cavanaugh JL
,
Chatfield KC
,
Miyamoto SD
,
Shaikh TH
Cite
DOI
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
Early treatment with dextromethorphan and sodium benzoate sufficient to normalize plasma glycine levels is effective at improving outcome if used in children with attenuated disease with mutations providing residual activity and when started from the neonatal period.
Bjoraker KJ
,
Swanson MA
,
Coughlin CR 2nd
,
Christodoulou J
,
Tan ES
,
Fergeson M
,
Dyack S
,
Ahmad A
,
Friederich MW
,
Spector EB
,
Creadon-Swindell G
,
Hodge MA
,
Gaughan S
,
Burns C
Cite
DOI
Low bone mineral density is a common finding in patients with homocystinuria
This study suggests that low BMD is common in both children and adults with HCU and that routine assessment of bone health in this patient population is warranted.
Weber DR
,
Coughlin C
,
Brodsky JL
,
Lindstrom K
,
Ficicioglu C
,
Kaplan P
,
Freehauf CL
,
Levine MA
Cite
DOI
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia
We describe clinical findings that can be used predict the clinical outcome in patients with NKH
Swanson MA
,
Coughlin CR Jr
,
Scharer GH
,
Szerlong HJ
,
Bjoraker KJ
,
Spector EB
,
Creadon-Swindell G
,
Mahieu V
,
Matthijs G
,
Hennermann JB
,
Applegarth DA
,
Toone JR
,
Tong S
,
Williams K
,
Van Hove JL.
Cite
DOI
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
This observational study reports the use of triple therapy, which combines three effective components in this rare condition, and suggests that early diagnosis and treatment with this new triple therapy may ameliorate the cognitive impairment in PDE.
Coughlin CR 2nd
,
van Karnebeek CD
,
Al-Hertani W
,
Shuen AY
,
Jaggumantri S
,
Jack RM
,
Gaughan S
,
Burns C
,
Mirsky DM
,
Gallagher RC
,
Van Hove JL.
Cite
DOI
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
This article describes a novel mitochondrial translational defect
Coughlin CR 2nd
,
Scharer GH
,
Friederich MW
,
Yu HC
,
Geiger EA
,
Creadon-Swindell G
,
Collins AE
,
Vanlander AV
,
Coster RV
,
Powell CA
,
Swanson MA
,
Minczuk M
,
Van Hove JL.
,
Shaikh TH
Cite
DOI
Clinical and biochemical characterization of four patients with mutations in ECHS1
We report four patients with mutations in ECHS1 In addition to the clinical phentoype including aLeigh-like presentation, we report the underlying bioenergetics of the disorder.
Ferdinandusse S
,
Friederich MW
,
Burlina A
,
Ruiter JP
,
Coughlin CR 2nd
,
Dishop MK
,
Gallagher RC
,
Bedoyan JK
,
Vaz FM
,
Waterham HR
,
Gowan K
,
Chatfield K
,
Bloom K
,
Bennett MJ
,
Elpeleg O
,
Van Hove JL.
,
Wanders RJ
Cite
DOI
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
This study provides evidence of abnormal mitochondrial RNA processing causing mitochondrial energy failure in HSD10 disease.
Chatfield KC
,
Coughlin CR 2nd
,
Friederich MW
,
Gallagher RC
,
Hesselberth JR
,
Lovell MA
,
Ofman R
,
Swanson MA
,
Thomas JA
,
Wanders RJ
,
Wartchow EP
,
Van Hove JL.
Cite
DOI
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations
The international PDE Consortium developed a recommendation for a lysine-restricted diet in PDE, with the aim of standardizing its implementation and monitoring of patients.
van Karnebeek CD
,
Stockler-Ipsiroglu S
,
Jaggumantri S
,
Assmann B
,
Baxter P
,
Buhas D
,
Bok LA
,
Cheng B
,
Coughlin CR 2nd
,
Das AM
,
Giezen A
,
Al-Hertani W
,
Ho G
,
Meyer U
,
Mills P
,
Plecko B
,
Struys E
,
Ueda K
,
Albersen M
,
Verhoeven N
,
Gospe SM Jr
,
Gallagher RC
,
Van Hove JK
,
Hartmann H
Cite
DOI
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
In patients with atypical NKH, mutations were identified in the genes for lipoate synthase (LIAS), BolA type 3 (BOLA3), and a novel gene glutaredoxin 5 (GLRX5)
Baker PR 2nd
,
Friederich MW
,
Swanson MA
,
Shaikh T
,
Bhattacharya K
,
Scharer GH
,
Aicher J
,
Creadon-Swindell G
,
Geiger E
,
MacLean KN
,
Lee WT
,
Deshpande C
,
Freckmann ML
,
Shih LY
,
Wasserstein M
,
Rasmussen MB
,
Lund AM
,
Procopis P
,
Cameron JM
,
Robinson BH
,
Brown GK
,
Brown RM
,
Compton AG
,
Dieckmann CL
,
Collard R
,
Coughlin CR 2nd
,
Spector E
,
Wempe MF
,
Van Hove JL.
Cite
DOI
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
This article describes a novel X-linked disorder in which transcriptional dysregulation leads to an inborn error of metabolism with a complex clinical phenotype.
Yu HC
,
Sloan JL
,
Scharer G
,
Brebner A
,
Quintana AM
,
Achilly NP
,
Manoli I
,
Coughlin CR 2nd
,
Geiger EA
,
Schneck U
,
Watkins D
,
Suormala T
,
Van Hove JL.
,
Fowler B
,
Baumgartner MR
,
Rosenblatt DS
,
Venditti CP
,
Shaikh TH
Cite
DOI
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
Cite
DOI
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report
We reported a 27-month-old female patient with DHPR deficiency who was treated with BH4 supplementation resulting in remarkable clinical improvement with normal plasma phenylalanine levels and increased phenylalanine tolerance.
Coughlin CR 2nd
,
Hyland K
,
Randall R
,
Ficicioglu C
Cite
DOI
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
This observational study provides Level 4 evidence that lysine restriction is well tolerated with significant decrease of potentially neurotoxic biomarkers in different body compartments, and with the potential to improve developmental outcomes in children with PDE caused by ATQ deficiency.
van Karnebeek CD
,
Hartmann H
,
Jaggumantri S
,
Bok LA
,
Cheng B
,
Connolly M
,
Coughlin CR 2nd
,
Das AM
,
Gospe SM Jr
,
Jakobs C
,
van der Lee JH
,
Mercimek-Mahmutoglu S
,
Meyer U
,
Struys E
,
Sinclair G
,
Van Hove J
,
Collet JP
,
Plecko BR
,
Stockler S
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DOI
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns
This review examines the advantages and limitations of CNV discovery in the clinical diagnostic laboratory and impact on the clinician and family.
Coughlin CR 2nd
,
Scharer GH
,
Shaikh TH
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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
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease
We describe a16p11.2 deletion associated with abnormalities of renal and enteric development and hypothesize that deletion of SH2B1 may account for the observed phenotype
Sampson MG
,
Coughlin CR 2nd
,
Kaplan P
,
Conlin LK
,
Meyers KE
,
Zackai EH
,
Spinner NB
,
Copelovitch L
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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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