Search filters

List of works by Susan A. Berry

3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase

scientific article

A Case of Satoyoshi Syndrome: A Multisystem Disorder ⬇️

scientific article published on October 1, 2003

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

scientific article published on 14 October 2004

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts

scientific article published on July 1988

A framework for assessing outcomes from newborn screening: on the road to measuring its promise

scientific article

A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency

scientific article published on August 1, 1992

A novel microdeletion/microduplication syndrome of 19p13.13.

scientific article published on August 2010

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

scientific article published on 10 May 2019

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

scientific article published on 3 January 2013

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

scientific article

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).

scientific article published on 27 April 2017

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

scientific article published on 14 December 2018

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

scientific article

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

scientific article published in January 2018

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

scientific article

CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia

scientific article published on 01 November 1999

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation

scientific article published on 4 January 2010

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

scientific article published on 01 December 1996

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

scientific article published on 20 February 2018

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation

scientific article

Definition of a high affinity growth hormone DNA response element

scientific article published on 01 April 1999

Deletion and duplication of 11p13-11p14: Reciprocal aberrations derived from a paternal insertion

scientific article published on 19 September 2011

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

scientific article published on 24 July 2019

Developmental regulation of the hepatic acute phase response.

scientific article published in September 1991

Differential endocrine regulation of alpha 2U-globulin messenger ribonucleic acid activity: effect of age at hypophysectomy

scientific article

Effects of elevated serum insulinlike growth factor-II on growth hormone and insulinlike growth factor-I mRNA and secretion

scientific article

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.

scientific article

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

scientific article published on 30 September 2019

Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening

scientific article published in December 2011

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. ⬇️

scientific article

Expanded newborn screening identifies maternal primary carnitine deficiency

scientific article published on 28 November 2006

Foundation of the Newborn Screening Translational Research Network and its tools for research

scientific article published on 05 November 2018

Germ cell localization of a testicular growth hormone-releasing hormone-like factor

scientific article published in July 1993

Glutamine and hyperammonemic crises in patients with urea cycle disorders.

scientific article

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

scientific article

Growth Hormone Induction of Hepatic Serine Protease Inhibitor 2.1 Transcription Is Mediated by a Stat5-related Factor Binding Synergistically to Two γ-Activated Sites

scientific article published in Journal of Biological Chemistry

Growth failure in cholestatic rats: the effect of malnutrition on insulin-like growth factor I.

scientific article published in November 1989

Hair Protein Patterns in a New Autosomal Dominant Ectodermal Dysplasia

scientific article published on 01 June 1987

Hepatic fatty acid-binding protein mRNA is regulated by growth hormone

scientific article published on 01 December 1993

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.

scientific article published on 7 September 2009

Hormonal regulation of serum alpha1-antitrypsin and hepatic alpha1-antitrypsin mRNA in rats

scientific article published on 01 September 1987

Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines

scientific article published on 04 June 2019

Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions

scientific article

Including ELSI research questions in newborn screening pilot studies

scientific article published on 13 August 2018

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

scientific article published in December 2006

Increased placental iron regulatory protein-1 expression in diabetic pregnancies complicated by fetal iron deficiency

scientific article published in January 1999

Infant with multiple congenital anomalies and deletion (9)(q34.3).

scientific article published in June 1994

Insurance coverage of medical foods for treatment of inherited metabolic disorders ⬇️

scientific article published on April 18, 2013

Interaction of growth hormone-releasing hormone with the insulin-like growth-factors during prenatal development in the rat.

scientific article published on September 1991

Klippel-Trenaunay syndrome

scientific article published on 01 October 1998

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

scientific article published on 20 October 2015

Long-term follow-up of newborn screening patients

scientific article published on December 2010

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

scientific article published on 10 July 2019

Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need

scientific article published on 07 February 2020

Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia

scientific article published on 01 June 1997

Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions

scientific article published on 28 April 2018

Newborn Screening

scientific article published on 04 April 2015

Newborn blood spot screening and genetic services: A survey of Minnesota primary care physicians

scientific article published on 01 October 2005

Newborn screening 50 years later: access issues faced by adults with PKU.

scientific article published on 07 March 2013

Ontogeny and pituitary regulation of testicular growth hormone-releasing hormone-like messenger ribonucleic acid

scientific article published in September 1990

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations

scientific article published in December 1997

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

scientific article published on 13 May 2016

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System

scientific article published on 15 February 2016

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

scientific article published on 9 April 2015

Parental permission for pilot newborn screening research: guidelines from the NBSTRN.

scientific article published on 06 January 2014

Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome

scientific article published on December 1995

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

scientific article published on 04 September 2018

Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control

scientific article

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

scientific article published on 10 October 2013

Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult and pediatric patients with urea cycle disorders

scientific article published on 15 June 2013

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants

scientific article published on 27 March 2018

Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease

scientific article published on 01 January 1993

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

scientific article

Recurrent Priapism During Treatment With Clozapine and Olanzapine

scientific article published on 01 April 2000

Regulation of Spi 2.1 and 2.2 gene expression after turpentine inflammation: discordant responses to IL-6.

scientific article

Regulation of purine metabolism: a comparative study of the kinetic properties of adenylosuccinate synthetases from various sources

scientific article published on January 1977

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis

scientific article

Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations

scientific article

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

scientific article

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

scientific article published on 5 August 2015

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.

scientific article published in July 2008

Single central incisor in familial holoprosencephaly

scientific article published in June 1984

Six New Mutations in the Ornithine Transcarbamylase Gene Detected by Single-Strand Conformational Polymorphism

article

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.

scientific article published on 18 June 2018

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders

scientific article published in May 2007

Ten novelFBN2mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype ⬇️

scientific article published on January 1, 2002

The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.

scientific article published in December 2010

The quality of metabolic newborn screening specialty care services: results of a survey of primary care providers

scientific article published on October 1, 2012

Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency

scientific article

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

scientific article

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

scientific article published on 18 August 2012

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

scientific article published on 11 February 2019

What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children

scientific article published on October 2011

Yin-yang 1 and glucocorticoid receptor participate in the Stat5-mediated growth hormone response of the serine protease inhibitor 2.1 gene

scientific journal article

Paulina is supported by:

About Paulina

Help