N. Boy

发表

Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening

I. Harting, A. Mohr, S. Kölker, 2021, Journal of inherited metabolic disease.

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I

S. Kölker, G. Hoffmann, P. Burgard, 2015, Orphanet Journal of Rare Diseases.

Arachnoid Cysts in Glutaric Aciduria Type I (GA-I)

S. Kölker, N. Boy, 2018 .

Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

J. Zschocke, S. Kölker, G. Hoffmann, 2007, Pediatric Research.

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

I. Harting, O. Bodamer, S. Kölker, 2017, Orphanet Journal of Rare Diseases.

Patterns, evolution, and severity of striatal injury in insidious‐ vs acute‐onset glutaric aciduria type 1

I. Harting, S. Kölker, S. Garbade, 2019, Journal of inherited metabolic disease.

Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1

I. Harting, S. Kölker, S. Garbade, 2018, Journal of Inherited Metabolic Disease.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

M. Baumgartner, N. Ah Mew, S. Kölker, 2018, Journal of inherited metabolic disease.

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

T. Giese, H. Prokisch, C. Klein, 2021, Journal of Clinical Immunology.

How longitudinal observational studies can guide screening strategy for rare diseases

S. Kölker, S. Garbade, N. Boy, 2022, Journal of inherited metabolic disease.

Organic acidurias in adults: late complications and management

S. Kölker, F. Hörster, N. Boy, 2018, Journal of Inherited Metabolic Disease.

Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

S. Kölker, G. Hoffmann, P. Burgard, 2013, Journal of Inherited Metabolic Disease.

Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

M. Baumgartner, S. Grünert, T. Marquardt, 2020, Journal of inherited metabolic disease.

Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis

S. Kölker, G. Hoffmann, S. Garbade, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Johannes Zschocke, Thomas Opladen, I. Harting, 2017, Journal of Inherited Metabolic Disease.

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2019, Journal of inherited metabolic disease.

Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

S. Kölker, J. Okun, P. Burgard, 2015 .

Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma

S. Kölker, Matthias Zielonka, A. Seitz, 2015, Journal of child neurology.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

M. Leichsenring, S. Grünert, S. Kölker, 2020, Pediatrics.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

M. Baumgartner, S. Kölker, R. Posset, 2018, Journal of inherited metabolic disease.

Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.

M. Wagner, T. Brunet, E. Schwaibold, 2020, Gene.

I. Harting, S. Kölker, S. Garbade, 2018, Neuropediatrics.

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

M. Baumgartner, S. Grünert, T. Marquardt, 2018, Annals of neurology.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

I. Harting, J. Zschocke, S. Kölker, 2009, Brain : a journal of neurology.

1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites

I. Harting, P. Pouwels, M. Bendszus, 2015, Journal of Inherited Metabolic Disease.

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

M. Baumgartner, S. Grünert, S. Kölker, 2021, Scientific Reports.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020

A. Mhanni, N. Boy, C. Rockman‐Greenberg, 2020, Molecular genetics and metabolism reports.

How guideline development has informed clinical research for organic acidurias (et vice versa)

M. Baumgartner, S. Kölker, F. Hörster, 2023, Journal of inherited metabolic disease.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

M. Baumgartner, I. Harting, B. Plecko, 2022, Journal of inherited metabolic disease.

Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data

S. Kölker, Matthias Zielonka, N. Boy, 2023, Journal of inherited metabolic disease.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

I. Harting, J. Zschocke, S. Kölker, 2009, Brain : a journal of neurology.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

I. Harting, C. Greenberg, J. Zschocke, 2017, Journal of Inherited Metabolic Disease.

Georg F. Hoffmann and Nenad Blau (eds): Congenital Neurotransmitter Disorders: A Clinical Approach

V. Peters, N. Boy, 2015, Journal of Inherited Metabolic Disease.