Alexander Laemmle

Bern, BE, Switzerland

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 24 publications

Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.

Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.

Journal: Journal of innate immunity
Published: February 26, 2026

Is congenital thrombotic thrombocytopenic purpura a risk factor for ischemic osteonecrosis of the hip joint (Legg-Calvé-Perthes disease)?

Is congenital thrombotic thrombocytopenic purpura a risk factor for ischemic osteonecrosis of the hip joint (Legg-Calvé-Perthes disease)?

Journal: Thrombosis journal
Published: December 06, 2025

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life.

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life.

Journal: Nutrients
Published: October 27, 2025

Pre-analytical considerations in the simultaneous quantification of ketone bodies, lactate, pyruvate and TCA cycle intermediates.

Pre-analytical considerations in the simultaneous quantification of ketone bodies, lactate, pyruvate and TCA cycle intermediates.

Journal: Clinical biochemistry
Published: August 04, 2025

Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology.

Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology.

Journal: Molecular genetics and metabolism reports
Published: May 29, 2025

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.

Journal: Journal of inherited metabolic disease
Published: November 13, 2024

Vitamin B12 deficiency misdiagnosed as TTP: What can we learn from it?

Vitamin B12 deficiency misdiagnosed as TTP: What can we learn from it?

Journal: British journal of haematology
Published: July 30, 2024

Inborn errors of the malate aspartate shuttle - Update on patients and cellular models.

Inborn errors of the malate aspartate shuttle - Update on patients and cellular models.

Journal: Molecular genetics and metabolism
Published: April 10, 2024

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant.

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant.

Journal: European journal of endocrinology
Published: March 29, 2024

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Journal: Nature communications
Published: February 29, 2024

Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.

Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.

Journal: Molecular genetics and metabolism reports
Published: January 24, 2024

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation.

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation.

Journal: Molecular genetics and metabolism reports
Published: July 27, 2023
Showing 1-12 of 24

Last Updated: 09/26/2026