S. McCandless

发表

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

M. Baumgartner, A. Gropman, M. Yudkoff, 2019, Annals of neurology.

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

I Knudsen, P. Bross, B. Andresen, 2001, American journal of human genetics.

The burden of genetic disease on inpatient care in a children's hospital.

S. McCandless, J. Brunger, S. Cassidy, 2004, American journal of human genetics.

Health Supervision for Children With Prader-Willi Syndrome

S. McCandless, 2011, Pediatrics.

The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005

D. Millington, D. Koeberl, S. McCandless, 2006, Journal of Inherited Metabolic Disease.

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

D. Millington, D. Koeberl, S. McCandless, 2003, Journal of Inherited Metabolic Disease.

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

P. Bross, B. Andresen, P. Engel, 2004, European journal of biochemistry.

A Newly Recognized Cause of Behavioral and Psychiatric Disorders

S. McCandless, N. Robin, Jennifer A. Scott, 2016 .

Deletion 22q11: a newly recognized cause of behavioral and psychiatric disorders.

S. McCandless, N. Robin, J. A. Scott, 1998, Archives of pediatrics & adolescent medicine.

Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes.

J. Nadeau, S. Schwartz, D. Westaway, 2000, Genomics.

The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics

S. McCandless, T. Strong, Jennifer L Miller, 2019, Genes.

Caregiver priorities for endpoints to evaluate treatments for Prader-Willi syndrome: a best–worst scaling

J. Bridges, S. McCandless, T. Strong, 2018, Journal of medical economics.

The perils of SNP microarray testing: uncovering unexpected consanguinity.

S. McCandless, B. Tarini, A. Goldenberg, 2013, Pediatric Neurology.

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis

S. Waisbren, B. Burton, N. Longo, 2021, Molecular genetics and metabolism.

Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.

Brendan H. Lee, G. Diaz, B. Scharschmidt, 2014, Molecular genetics and metabolism.

Effects of MetAP2 inhibition on hyperphagia and body weight in Prader–Willi syndrome: A randomized, double‐blind, placebo‐controlled trial

Dennis D. Kim, L. Bird, D. Viskochil, 2017, Diabetes, obesity & metabolism.

Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry

S. McCandless, T. Strong, Jennifer L Miller, 2021, BMC Ophthalmology.

Design and implementation of the first randomized controlled trial of coenzyme CoQ₁₀ in children with primary mitochondrial diseases.

D. Kerr, T. Degrauw, C. Hoppel, 2012, Mitochondrion.

A primer on expanded newborn screening by tandem mass spectrometry.

S. McCandless, 2004, Primary care.

Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.

D. J. Driscoll, T. Ohta, B. Horsthemke, 1999, American journal of human genetics.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

McKusick‐Kaufman syndrome: The difficulty of establishing a prenatal diagnosis of an uncommon disorder

T. Slavin, S. McCandless, N. Lazebnik, 2010, Journal of clinical ultrasound : JCU.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

M. Baumgartner, N. Ah Mew, S. Kölker, 2018, Journal of inherited metabolic disease.

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

J. Vockley, N. Longo, G. Diaz, 2017, Molecular genetics and metabolism.

Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate.

Brendan H. Lee, G. Diaz, B. Scharschmidt, 2013, The Journal of pediatrics.

Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian wars of the nineteenth century.

S. McCandless, D. Hu, S. Holve, 2001, American journal of medical genetics.

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

G. Enns, C. Hoppel, J. Bedoyan, 2016, Molecular genetics and metabolism.

Mandatory newborn screening in the United States: History, current status, and existential challenges

S. McCandless, E. J. Wright, 2020, Birth defects research.

Genomic Counseling in the Newborn Period: Experiences and Views of Genetic Counselors

S. McCandless, A. Goldenberg, A. Matthews, 2014, Journal of Genetic Counseling.

Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies

J. Gastier-Foster, L. Jeng, S. McCandless, 2010, American journal of medical genetics. Part A.

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

M. Tuchman, G. Enns, A. Cnaan, 2018, Translational science of rare diseases.

Prader-Willi Syndrome: A Neonatology Success Story

S. McCandless, 2005 .

Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

S. McCandless, E. Lisi, 2016, Journal of Genetic Counseling.

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

B. Byrne, H. Mandel, N. Leslie, 2009, Genetics in Medicine.

Mosaicism for an FMR1 gene deletion in a fragile X female

V. Shashi, R. Farber, J. Booker, 2005, American journal of medical genetics. Part A.

Multiple Muscle Cell Alterations in a Case of Encephalomyopathy

Mark L. Cohen, C. Hoppel, B. Tandler, 2014, Ultrastructural pathology.

Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate

Brendan H. Lee, G. Diaz, B. Scharschmidt, 2015, Molecular genetics and metabolism reports.

Stopping Parenteral Nutrition for 3 Hours Reduces False Positives in Newborn Screening.

S. McCandless, M. Nock, H. Harmon, 2015, The Journal of pediatrics.

Automated syndrome diagnosis by three-dimensional facial imaging

David C. Katz, Jordan J. Bannister, Jacinda R. Larson, 2020, Genetics in Medicine.

Thrombosis Risk History and D-dimer Levels in Asymptomatic Individuals with Prader–Willi Syndrome

S. McCandless, J. Malloy, Jennifer L Miller, 2022, Journal of clinical medicine.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

H. Mizumoto, S. Wortmann, S. Grünert, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.

S. McCandless, S. Debrosse, Lori-Anne P Schillaci, 2018, Pediatric clinics of North America.

REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.

S. McCandless, A. Larson, J. V. Van Hove, 2021, Molecular genetics and metabolism.

Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders

N. Longo, A. Bannick, G. Diaz, 2020, Molecular genetics and metabolism.

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

S. Cederbaum, N. Longo, Brendan H. Lee, 2013, Hepatology.

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.

M. Pomper, P. Jayakar, N. Braverman, 2003, Molecular genetics and metabolism.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Martin A. M. Reijns, J. Rosenfeld, Sancha Martin, 2018, American journal of human genetics.

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

M. Yudkoff, R. McCarter, S. McCandless, 2019, Genetics in Medicine.

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.

Marshall Summar, Matthias Baumgartner, Jeffrey Krischer, 2010, Molecular genetics and metabolism.

Disorganization in mice and humans and its relation to sporadic birth defects.

J. Nadeau, S. McCandless, N. Robin, 1997, American journal of medical genetics.

Rare SUZ12 variants commonly cause an overgrowth phenotype

Steven J. M. Jones, R. Weksberg, L. Bird, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

A clinical report of a patient with two abnormal cell lines: 46,XX,del(21)(q22.1) and 47,XX,+3

S. McCandless, S. Gold, Kathleen W. Rao, 2005, American journal of medical genetics. Part A.

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.

D. Rockey, N. Longo, G. Diaz, 2013, Molecular genetics and metabolism.

Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia

S. McCandless, 2018, Pediatrics.

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

J L Merritt, B F Scharschmidt, S. Cederbaum, 2012, Molecular genetics and metabolism.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

M. Baumgartner, S. Kölker, R. Posset, 2018, Journal of inherited metabolic disease.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, npj Genomic Medicine.

Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome.

S. Schwartz, S. McCandless, N. Robin, 2000, American journal of medical genetics.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, NPJ genomic medicine.

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

D. Kerr, G. Grahame, J. Bedoyan, 2014, Molecular genetics and metabolism reports.

A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome).

S. McCandless, J. Muenzer, T. Schuetz, 2007, Molecular genetics and metabolism.

A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis

S. McCandless, K. Armitage, Gregory A. Nizialek, 2021, Molecular genetics and metabolism reports.

Glutamine and hyperammonemic crises in patients with urea cycle disorders.

M. Marino, N. Longo, Brendan H. Lee, 2016, Molecular genetics and metabolism.

Intranasal Carbetocin Reduces Hyperphagia, Anxiousness and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.

E. Roeder, L. Bird, D. Viskochil, 2023, Journal of Clinical Endocrinology and Metabolism.

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

M. Gambello, D. Dimmock, Rani H. Singh, 2018, Molecular genetics and metabolism.

Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.

D. Kerr, G. Grahame, J. Bedoyan, 2017, Molecular Genetics and Metabolism.

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

A. Wynshaw-Boris, J. Bedoyan, S. McCandless, 2019, Molecular genetics and metabolism reports.

Maculopathy Due to Cobalamin C (cb1C) Disease in an Amish Child.

E. Traboulsi, S. McCandless, L. W. Grant, 2010, Journal of pediatric ophthalmology and strabismus.

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment

S. McCandless, A. Larson, J. V. Van Hove, 2021, Journal of inherited metabolic disease.

Diagnostic Criteria for Prader-Willi Syndrome

S. McCandless, S. Cassidy, 2006 .

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

S. McCandless, J. Seminara, S. Berry, 2019, Genetics in Medicine.

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders.

R. Holt, J. Vockley, N. Longo, 2018, Molecular genetics and metabolism.

Newsletter of the Urea Cycle Disorders Consortium

S. McCandless, 2019 .

Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.

S. McCandless, S. Linard, R. Chandrasekar, 2013, Molecular genetics and metabolism.

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

M. Marino, S. Cederbaum, J. Vockley, 2014, Genetics in Medicine.

Neuropsychiatric Function Improvement in Pediatric Patients With Phenylketonuria.

S. Stahl, D. Dimmock, S. McCandless, 2023, The Journal of pediatrics.

Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example

B. Cuneo, S. McCandless, A. Larson, 2023, Prenatal diagnosis.

ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

M. Tuchman, M. Baumgartner, S. Waisbren, 2021, Human Genetics.

Risk for ingestion of toxic substances in children with Prader–Willi syndrome

S. McCandless, Karen Powell, U. Sandberg, 2012, American journal of medical genetics. Part A.

SUN-604 U.S. Prevalence & Mortality of Prader-Willi Syndrome: A Population-Based Study of Medical Claims

S. McCandless, Justin W. Li, D. Yin, 2020, Journal of the Endocrine Society.

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.

D. Rockey, N. Longo, Brendan H. Lee, 2013, Molecular genetics and metabolism.

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

S. Cederbaum, N. Longo, Brendan H. Lee, 2013, Hepatology.

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

R. Holt, J. Vockley, N. Longo, 2019, Molecular genetics and metabolism.

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

M. Marino, S. Cederbaum, J. Vockley, 2015, Molecular genetics and metabolism.

Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.

Brendan H. Lee, G. Diaz, B. Scharschmidt, 2014, Molecular genetics and metabolism.

Health Supervision for Children With Prader-Willi Syndrome

S. McCandless, 2011, Pediatrics.

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

S. Cederbaum, J. Vockley, N. Longo, 2014, Genetics in Medicine.