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Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1102-1108

2022

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The Current State of Newborn Screening in the United States

The Pediatric clinics of North America, 2019-04, Vol.66 (2), p.369-386

2019

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A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2704-2708

2020

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P330: Gabriele-de Vries syndrome: Exploring the phenotype of a recently described genetic disorder

Genetics in Medicine Open, 2023, Vol.1 (1), p.100358, Article 100358

2023

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Two unrelated cases of mild methylmalonic acidemia-mutase deficiency with shared variant treated with vitamin B12 only

Molecular genetics and metabolism, 2021-04, Vol.132, p.S15

2021

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eP022 - Two unrelated cases of mild methylmalonic acidemia-mutase deficiency with shared variant treated with vitamin B12 only

Molecular genetics and metabolism, 2021-04, Vol.132, p.S15-S15

2021

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Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report

European journal of medical genetics, 2021-04, Vol.64 (4), p.104184-104184, Article 104184

2021

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ELEVATION OF HEPTADECANOYLCARNITINE DETECTED VIA NEWBORN SCREENING IS A STRONG PREDICTOR OF NEONATAL-ONSET DISEASE AMONG INBORN ERRORS OF METABOLISM AFFECTING PROPIONYLCARNITINE METABOLISM

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.267-267

2022

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Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency

Neuropediatrics, 2020-04, Vol.51 (2), p.160

2020

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An infant with severe combined immunodeficiency, osteopetrosis, chromosomally integrated herpesvirus‐6 infection, and hemophagocytic syndrome: What are the links?

Pediatric blood & cancer, 2021-01, Vol.68 (1), p.e28564-n/a

2021

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eP169 - Rapid exome and genome sequencing in critically ill pediatric patients: 3-year experience from the Children’s Hospital of Michigan

Molecular genetics and metabolism, 2021-04, Vol.132, p.S111-S112

2021

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Rapid exome and genome sequencing in critically ill pediatric patients: 3-year experience from the Children’s Hospital of Michigan

Molecular genetics and metabolism, 2021-04, Vol.132, p.S111-S112

2021

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Gender Role Across Development in Adults with 46,XY Disorders of Sex Development Including Perineoscrotal Hypospadias and Small Phallus Raised Male or Female

Journal of Pediatric Endocrinology and Metabolism, 2008-07, Vol.21 (7), p.625-630

2008

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Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq

American journal of medical genetics. Part A, 2023-12, Vol.191 (12), p.2908-2912

2023

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ARGININOSUCCINIC ACID IS EXQUISITELY SENSITIVE AND SPECIFIC COMPARED TO CITRULLINE IN SCREENING FOR ARGININOSUCCINIC ACID LYASE DEFICIENCY VIA NEWBORN SCREENING: MICHIGAN'S 10 YEARS OF EXPERIENCE

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107411, Article 107411

2023

Volltextzugriff (PDF)

Exploring the Learning Processes Needed by Nonprofit Fund Development Managers in Northern Colorado

Dietz Pappas, Kara

2021

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X inactivation in triploidy and trisomy : the search for autosomal transfactors that choose the active X

European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.153-162

2008

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Child with Suspected Metabolic Disorder

Symptom-Based Approach to Pediatric Neurology, 2023, p.639-652

2023

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An infant with severe combined immunodeficiency, osteopetrosis, chromosomally integrated herpesvirus-6 infection, and hemophagocytic syndrome: What are the links?

Pediatric blood & cancer, 2021, Vol.68 (1), p.e28564-e28564

2021

Volltextzugriff (PDF)

A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines

American journal of medical genetics. Part A, 2020, Vol.182 (11), p.2704-2708

2020

Volltextzugriff (PDF)

Androgen Insensitivity and Gonadal Dysgenesis

Pediatric, Adolescent, & Young Adult Gynecology, 2009, p.36-52

2009

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Developmental Outcomes of Very Preterm Infants with Tracheostomies

The Journal of pediatrics, 2014-06, Vol.164 (6), p.1303-1310.e2

2014

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Zollinger-Ellison syndrome associated with a history of alcohol abuse: Coincidence or consequence?

Surgery, 2011-12, Vol.150 (6), p.1129-1135

2011

Volltextzugriff (PDF)

Chronic Kidney Disease and Left Ventricular Assist Device Patients: A Retrospective Review

Journal of cardiac failure, 2019-08, Vol.25 (8), p.S165-S165

2019

Volltextzugriff (PDF)

Mobile technology in a clinical setting

AMIA ... Annual Symposium proceedings, 2003, Vol.2003, p.863-863

2003

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Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening

The Current State of Newborn Screening in the United States

A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines

P330: Gabriele-de Vries syndrome: Exploring the phenotype of a recently described genetic disorder

Two unrelated cases of mild methylmalonic acidemia-mutase deficiency with shared variant treated with vitamin B12 only

eP022 - Two unrelated cases of mild methylmalonic acidemia-mutase deficiency with shared variant treated with vitamin B12 only

Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report

ELEVATION OF HEPTADECANOYLCARNITINE DETECTED VIA NEWBORN SCREENING IS A STRONG PREDICTOR OF NEONATAL-ONSET DISEASE AMONG INBORN ERRORS OF METABOLISM AFFECTING PROPIONYLCARNITINE METABOLISM

Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency

An infant with severe combined immunodeficiency, osteopetrosis, chromosomally integrated herpesvirus‐6 infection, and hemophagocytic syndrome: What are the links?

eP169 - Rapid exome and genome sequencing in critically ill pediatric patients: 3-year experience from the Children’s Hospital of Michigan

Rapid exome and genome sequencing in critically ill pediatric patients: 3-year experience from the Children’s Hospital of Michigan

Gender Role Across Development in Adults with 46,XY Disorders of Sex Development Including Perineoscrotal Hypospadias and Small Phallus Raised Male or Female

Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq

ARGININOSUCCINIC ACID IS EXQUISITELY SENSITIVE AND SPECIFIC COMPARED TO CITRULLINE IN SCREENING FOR ARGININOSUCCINIC ACID LYASE DEFICIENCY VIA NEWBORN SCREENING: MICHIGAN'S 10 YEARS OF EXPERIENCE

Exploring the Learning Processes Needed by Nonprofit Fund Development Managers in Northern Colorado

X inactivation in triploidy and trisomy : the search for autosomal transfactors that choose the active X

Child with Suspected Metabolic Disorder

An infant with severe combined immunodeficiency, osteopetrosis, chromosomally integrated herpesvirus-6 infection, and hemophagocytic syndrome: What are the links?

A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines

Androgen Insensitivity and Gonadal Dysgenesis

Developmental Outcomes of Very Preterm Infants with Tracheostomies

Zollinger-Ellison syndrome associated with a history of alcohol abuse: Coincidence or consequence?

Chronic Kidney Disease and Left Ventricular Assist Device Patients: A Retrospective Review

Mobile technology in a clinical setting

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