D. Kronn

发表

Current enzyme replacement therapy for the treatment of lysosomal storage diseases.

E. Lim-Melia, D. Kronn, 2009, Pediatric annals.

Newborn screening for Krabbe disease: the New York State model.

B. Kosofsky, T. Naidich, J. Provenzale, 2009, Pediatric neurology.

Diagnostic guidelines for newborns who screen positive in newborn screening

N. Braverman, D. Kronn, S. Mofidi, 2010, Genetics in Medicine.

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Matthew J. Nichols, J. Kurtzberg, P. Galvin-Parton, 2016, Genetics in Medicine.

Hereditary Folate Malabsorption: Family Report and Review of the Literature

C. Sandoval, S. Jayabose, D. Kronn, 2002, Medicine.

Rare etiology of autosomal recessive disease in a child with noncarrier parents.

D. Chuang, R. Lebo, J. Chuang, 2000, American journal of human genetics.

Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.

J. Gusella, M. Short, M. Maccollin, 1997, American journal of human genetics.

Schwannomatosis

M. Short, M. Maccollin, D. Kronn, 1996, Neurology.

Schwannomatosis

M. Short, M. Maccollin, D. Kronn, 1996, Neurology.

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

H. Freeze, C. Lebrilla, E. Faqeih, 2018, American journal of human genetics.

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Matthew J. Nichols, P. Galvin-Parton, M. Caggana, 2010, Molecular genetics and metabolism.

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort

B. Byrne, S. Colan, D. Stockton, 2021, Cardiology in the Young.

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

D. Stockton, M. Gambello, N. Leslie, 2018, Genetics in Medicine.

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

S. Packman, O. Abdul-Rahman, P. Tanpaiboon, 2018, Genetics in Medicine.

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

W. Hwu, K. Swoboda, T. Okuyama, 2017, Pediatrics.

High-Yield Noninvasive Human Genomic DNA Isolation Method for Genetic Studies

C. Oddoux, D. Kronn, J. Phillips, 2007 .

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

E. Zackai, B. Korf, V. Narayanan, 2009, JAMA.

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort

D. Stockton, N. Leslie, P. Tanpaiboon, 2022, Journal of neuromuscular diseases.

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

D. Stockton, M. Gambello, N. Leslie, 2019, Genetics in Medicine.

Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: Case report and review of the literature

J. Stewart, Sharon R. Pine, C. Sandoval, 2005, Pediatric blood & cancer.

Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.

J. Overhauser, C. Sreekantaiah, D. Kronn, 1999, American journal of medical genetics.

Emergency management of inherited metabolic disorders.

D. Kronn, S. Mofidi, 2009 .

Mosaic chromosomal aneuploidy detection by sequencing (MAD-seq)

Kenny Q. Ye, A. Auton, J. Greally, 2017, bioRxiv.

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

S. Cederbaum, B. Burton, N. Longo, 2008, 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.

Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases

E. Kraft, S. Rutkove, J. Upadhyay, 2021, Neuroscience & Biobehavioral Reviews.

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

T. Naidich, J. Provenzale, J. Kurtzberg, 2016, Genetics in Medicine.

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

G. Raymond, J. Orsini, M. Caggana, 2015, Molecular genetics and metabolism.

MeCP2 mutations in children with and without the phenotype of Rett syndrome

E. Hoffman, V. Narayanan, K. Hoffbuhr, 2001, Neurology.

Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq

Kenny Q. Ye, A. Auton, J. Greally, 2018, Genome research.

Carrier Screening for Cystic Fibrosis, Gaucher Disease, and Tay-Sachs Disease in the Ashkenazi Jewish Population

H. Ostrer, D. Kronn, V. Jansen, 2017 .

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

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

Hereditary folate malabsorption

I. Goldman, D. Kronn, N. Diop-Bove, 2014, Definitions.

Focal abdominal wall hernias and pre-axial toe polydactyly define distinct phenotypes and etiologies for infants of diabetic mothers and the VATER Association

D. Beneck, D. Kronn, I. Legarda, 2000, Genetics in Medicine.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

N. Guex, N. Brown, W. Chung, 2019, bioRxiv.

Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification

Jong-Won Kim, P. Rinaldo, D. Matern, 2005, Genetics in Medicine.

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.

Y. Chien, A. Broomfield, A. Brassier, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

W. Hwu, B. Burton, P. Kishnani, 2017, Pediatrics.

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.

S. Dimauro, E. Schon, P. Canoll, 2002, Archives of neurology.

Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.

O. Abdul-Rahman, P. Tanpaiboon, A. Rosenberg, 2017, JCI insight.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

S. Wortmann, N. Voermans, L. Al-Gazali, 2020, Molecular genetics and metabolism.

D. Stockton, M. Gambello, N. Leslie, 2018, Genetics in Medicine.

Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population.

H. Ostrer, C. Oddoux, D. Kronn, 1995, American journal of human genetics.

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

B. Burton, M. Deardorff, E. Bedoukian, 2017, Clinical genetics.

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

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

Navigating Newborn Screening in the NICU: A User's Guide.

D. Kronn, 2019, NeoReviews.

Defects in long chain fatty acid oxidation presenting as severe cardiomyopathy and cardiogenic shock in infancy

U. Krishnan, D. Kronn, Narendra R Dereddy, 2009, Cardiology in the Young.

Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series

V. Palusci, R. Altman, D. Kronn, 2018, Journal of Pediatric Genetics.

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

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

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.

Hereditary Folate Malabsorption

I. Goldman, D. Kronn, N. Diop-Bove, 2014 .

Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.

D. Kronn, Valerie Jansen, Harry Ostrer, 1998, Archives of internal medicine.

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

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