Defective tubular reabsorption of pyruvic and L-lactic acid

Correlating Quality of Life with Point-of-Care Intestinal Ultrasound in Inflammatory Bowel Disease (CUALITY Study).

Acta gastro-enterologica Belgica·2026

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

JIMD reports·2013

ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

JIMD reports·2013

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.

Neurology·2012

SRD5A3-CDG: a patient with a novel mutation.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2012

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

BMJ case reports·2011

Clinical Uses of Common Genetic Variants Associated with Common Diseases.

The New England journal of medicine·2026

Etuvetidigene Autotemcel for the Treatment of Wiskott-Aldrich Syndrome.

The New England journal of medicine·2026

Phase 1 Study of Anito-cel, a d-Domain BCMA CAR T Cell for Refractory or Recurrent Myeloma.

The New England journal of medicine·2026

Effect of Screening with Multicancer Early-Detection Test on Late-Stage Cancer Diagnosis.

The New England journal of medicine·2026

Continuous-Wave Electron Paramagnetic Resonance Spectroscopy in Pharmaceutical Research: Current Applications and Emerging Opportunities.

Pharmaceuticals (Basel, Switzerland)·2026

Spectrophotometric Studies of a Fluorescent Naphthalenediimide PET and ICT pH Indicator and DNA Intercalator.

Molecules (Basel, Switzerland)·2026

Numerical Investigation of CsSnI3 Absorber Layer Parameters Toward Efficient Tin-Based Perovskite Solar Cells.

Molecules (Basel, Switzerland)·2026

Artificial Intelligence Enabled Diagnostics Using Photoplethysmography (PPG): Beyond SpO2 and Heart Rate.

Life (Basel, Switzerland)·2026

Anisotropic Structural Response of NdGaO3 Single Crystals to 147 MeV Kr-Ion Irradiation.

Materials (Basel, Switzerland)·2026

Spectral linearity and acquisition-chain effects in a LaBr3:Ce scintillation detector.

Applied radiation and isotopes : including data, instrumentation and methods for use in agriculture, industry and medicine·2026

Related Experiment Videos

Defective tubular reabsorption of pyruvic and L-lactic acid

Related Concept Videos

Correlating Quality of Life with Point-of-Care Intestinal Ultrasound in Inflammatory Bowel Disease (CUALITY Study).

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.

SRD5A3-CDG: a patient with a novel mutation.

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

Clinical Uses of Common Genetic Variants Associated with Common Diseases.

Etuvetidigene Autotemcel for the Treatment of Wiskott-Aldrich Syndrome.

Phase 1 Study of Anito-cel, a d-Domain BCMA CAR T Cell for Refractory or Recurrent Myeloma.

Effect of Screening with Multicancer Early-Detection Test on Late-Stage Cancer Diagnosis.

Continuous-Wave Electron Paramagnetic Resonance Spectroscopy in Pharmaceutical Research: Current Applications and Emerging Opportunities.

Spectrophotometric Studies of a Fluorescent Naphthalenediimide PET and ICT pH Indicator and DNA Intercalator.

Numerical Investigation of CsSnI3 Absorber Layer Parameters Toward Efficient Tin-Based Perovskite Solar Cells.

Artificial Intelligence Enabled Diagnostics Using Photoplethysmography (PPG): Beyond SpO2 and Heart Rate.

Anisotropic Structural Response of NdGaO3 Single Crystals to 147 MeV Kr-Ion Irradiation.

Spectral linearity and acquisition-chain effects in a LaBr3:Ce scintillation detector.

Related Experiment Videos

Defective tubular reabsorption of pyruvic and L-lactic acid

Related Concept Videos

Related Articles