S. Winter

发表

Small Molecule Therapy for Genetic Disease: L-carnitine therapy in primary and secondary carnitine deficiency disorders

N. Buist, B. Schreiber, S. Winter, 2010 .

Inborn Errors of Metabolism: Medical and Administrative

S. Winter, Mb ChB Neil R. M. Buist, 1998 .

Treatment of carnitine deficiency

S. Winter, 2003, Journal of Inherited Metabolic Disease.

Pilot Survey of Shared Decision-Making Between Orthopaedic Surgeons and Their Patients in Guatemala

F. Barchi, S. Winter, S.N. Martinez-Siekavizza, 2019, The Journal of bone and joint surgery. American volume.

Genotype–phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

H. Osaka, G. Salomons, G. Mancini, 2015, Clinical Genetics.

Nonketotic Hyperglycinemia: Two Patients with Primary Defects of P-Protein and T-Protein, Respectively, in the Glycine Cleavage System

W. Nyhan, K. Hayasaka, K. Tada, 1983, Pediatric Research.

Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

P. Matthews, S. Old, H. Dahl, 1994, Annals of neurology.

Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency

W. Nyhan, D. Lehotay, B. Middleton, 1991, Journal of Inherited Metabolic Disease.

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.

G. Finocchiaro, K. Tanaka, D. Hale, 1988, The Journal of clinical investigation.

Relative carnitine insufficiency in children with type I diabetes mellitus.

M. Simon, S. Winter, L. Higashi, 1989, American journal of diseases of children.

The Role of L-Carnitine in Pediatric Cardiomyopathy

J. Prochazka, J. Procházka, K. Jue, 1995, Journal of child neurology.

Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine.

Susan C. Winter, N. Buist, S. Winter, 2000, American heart journal.

Plasma carnitine in fasting neonatal and adult northern elephant seals.

D. Costa, S. Adams, S. Winter, 1992, The American journal of physiology.

Metabolic aspects of myocardial disease and a role for L-carnitine in the treatment of childhood cardiomyopathy.

G. Koch, J. Prochazka, J. Procházka, 2000, Pediatrics.

Mucosal enzyme activity for butyrate oxidation; no defect in patients with ulcerative colitis.

A. Light, S. Winter, A. Allan, 1996, Gut.

A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.

T. Hudson, A. Verner, D. González-Halphen, 2001, American journal of human genetics.

Effects of Ascorbic Acid in Alkaptonuria: Alterations in Benzoquinone Acetic Acid and an Ontogenic Effect in Infancy

W. Nyhan, B. Barshop, M. Garst, 1989, Pediatric Research.

Plasma carnitine concentrations in pregnancy, cord blood, and neonates and children.

S. Winter, E. Helton, L. Linn, 1995, Clinica chimica acta; international journal of clinical chemistry.

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, European Journal of Human Genetics.

STXBP1 encephalopathy

P. Striano, K. Sleegers, G. Cantalupo, 2016, Neurology.

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Marni J. Falk, J. Rosenfeld, L. Shaffer, 2013, neurogenetics.

Management of methylmalonic acidaemia by combined liver–kidney transplantation

M. Sarwal, G. Enns, S. Winter, 2005, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of the Beckwith-Wiedemann syndrome.

C. Curry, S. Winter, J. C. Smith, 1997, American journal of medical genetics.

Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia.

W. Nyhan, B. Barshop, R. Gish, 2015, JIMD reports.

Plasma carnitine deficiency. Clinical observations in 51 pediatric patients.

C. Curry, A. Shug, S. Winter, 1987, American journal of diseases of children.

Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features

J. Ganesh, S. Sajan, D. Shinde, 2018, Journal of Medical Genetics.

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

E. Zackai, M. Deardorff, A. Telegrafi, 2018, American journal of medical genetics. Part A.

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey

G. B. Schaefer, B. Helm, S. Kahler, 2017, American journal of medical genetics. Part A.

The effect of valproic acid on plasma carnitine levels.

C. Vance, G. Opala, H. Hutchison, 1991, American journal of diseases of children.

Therapy of metabolic disorders with intravenous (IV) access ports and long term intravenous L-carnitine therapy.

M. J. Chandler, C. Field, S. Winter, 1999, The Southeast Asian journal of tropical medicine and public health.

Syndrome of inappropriate secretion of antidiuretic hormone secondary to vinblastine overdose.

G. Arbus, S. Winter, 1977, Canadian Medical Association journal.

Plasma carnitine deficiency

C. Curry, A. Shug, S. Winter, 1987 .

Foreword

S. Winter, 2016, Annals of Nutrition and Metabolism.