Ina Knerr

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Consultant Metabolic Paediatrician, Clinical Professor

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Ireland

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Ina Knerr is a Consultant Metabolic Paediatrician and Clinical Professor at Children's Health Ireland at Temple Street. Her research primarily focuses on metabolic disorders in children, with recent articles addressing topics such as MTHFR deficiency, dietary assessment in galactosaemia, and the biochemical testing for inborn errors of metabolism. Dr. Knerr advocates for early diagnosis and multidisciplinary approaches to pediatric metabolic conditions.

Recent Grants

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Development of a Gold Standard multi-disciplinary Research Framework for the National Centre for Inherited Metabolic Disorders CHI at Temple Street

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Galactosaemia, translating novel monitoring approaches into improved clinical practice

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Four decades of Newborn Screening for Maple Syrup Urine Disease in the Republic of Ireland

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Ina Knerr

Research Interests

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About

Recent Grants

Articles (15)

3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

Determination of the Protein and Amino Acid Content of Fruit, Vegetables and Starchy Roots for Use in Inherited Metabolic Disorders

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population

Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment.

A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016–2020)

Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the <i>TMCO1</i> and <i>PRKRA</i> genes.

Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre.

Ornithine transcarbamylase deficiency: A diagnostic odyssey

Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.

Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Collaborators (11)

Pasi I Nevalainen

Brian McCabe

Sally Ann Lynch

Clare Reynolds

Manuela Morleo

Vincenzo Gennarino

David Cassiman

Andrew Green

Kristen Lancaster

Beate Peter

Gwendolyn Gramer

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