A. Kritzer

发表

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report

C. Harding, F. Rohr, H. Levy, 2020, Molecular genetics and metabolism reports.

Cerebellar cognitive affective syndrome: insights from Joubert syndrome

J. Schmahmann, J. Sherman, P. Caruso, 2018, Cerebellum & Ataxias.

Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism

D. Weiner, K. Michelson, Nina B. Gold, 2019, Pediatric emergency care.

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report

Robert C. Green, Matthew S. Lebo, Heidi L. Rehm, 2018, Cold Spring Harbor molecular case studies.

Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes

M. Wojcik, Yarden S. Fraiman, Maya C. del Rosario, 2022, Pediatric Research.

First 1.5 years of pegvaliase clinic: Experiences and outcomes

H. Levy, Benjamin D. Goodlett, A. Kritzer, 2020, Molecular genetics and metabolism reports.

Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center

Celeste R. Wilson, A. Kritzer, Clara C Hildebrandt, 2022, Child Abuse & Neglect.

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients

O. Bodamer, A. Kritzer, Kate Leestma, 2019, Molecular genetics and metabolism reports.

A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive

J. Chan, A. Kritzer, Daniel V. Ho, 2022, Human mutation.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

Rare Diseases, Common Barriers: Disparities in Pediatric Clinical Genetics Outcomes

M. Wojcik, Yarden S. Fraiman, Maya C. del Rosario, 2022, Pediatric Research.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature Genetics.

A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

P. Grant, S. Ferdinandusse, T. Yu, 2020, American journal of medical genetics. Part A.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Vladimir S Fonov, Undiagnosed Diseases Network, C. Saunders, 2022, medRxiv.

Cerebellar cognitive affective syndrome: insights from Joubert syndrome

J. Schmahmann, J. Sherman, P. Caruso, 2018, Cerebellum & ataxias.

Reinstitution of pegvaliase therapy during lactation

S. Waisbren, C. Harding, F. Rohr, 2022, Molecular genetics and metabolism reports.

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Jill A. Madden, P. Grant, A. O’Donnell-Luria, 2021, American journal of human genetics.

Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention

A. Kritzer, Kimberly H Barbas, Stacey Tarrant, 2020, JIMD reports.

Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox.

W. Tan, Deborah R. Stein, F. Rajabi, 2018, Jornal de Pediatria.

Quality improvement: The tools we need to improve care for patients with inborn errors of metabolism.

A. Kritzer, 2020, Molecular genetics and metabolism.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2021, Nature Genetics.

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

J. Lupski, P. Sulem, S. Küry, 2024, American journal of human genetics.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Rebecca C. Spillmann, Thomas M. Durcan, Vladimir S Fonov, 2024, Nature communications.

Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program.

K. Mace, A. Kritzer, P. Herout, 2024, Molecular genetics and metabolism.