Two "new" treatable inherited biosynthetic disorders

The complete European guidelines on phenylketonuria: diagnosis and treatment.

Orphanet journal of rare diseases·2017

Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.

JIMD reports·2016

Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin.

European journal of pediatrics·2013

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Journal of inherited metabolic disease·2009

Genes, patients, families, doctors-mutation analysis in clinical practice.

Journal of inherited metabolic disease·2009

Tolerance to fast: rational and practical evaluation in children with hypoketonaemia.

Journal of inherited metabolic disease·2009

[177Lu]Lu-PSMA-617 in patients with PSMA-positive metastatic androgen pathway modulator-naive/sensitive prostate cancer (PSMAddition): a phase 3 randomised, controlled trial.

Lancet (London, England)·2026

Multivessel coronary artery bypass grafting via small thoracotomy versus sternotomy (MIST): an investigator-initiated, international, open-label, randomised controlled trial.

Lancet (London, England)·2026

Efficacy and safety of once-weekly subcutaneous zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Lancet (London, England)·2026

Efficacy and safety of once-daily oral zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in adults with type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Lancet (London, England)·2026

Zinc-Based bioMOF Nanocarrier for Curcumin Release Enables Permeation through Biomimetic Biological Membranes and Controlled Release.

ACS omega·2026

Flavonoids in MASLD: preclinical mechanisms, pharmacological targets, and translational challenges.

Frontiers in pharmacology·2026

Determinants of substrate specificity in mint pulegone reductase, a double bond reductase of the medium-chain dehydrogenase/reductase superfamily.

The Journal of biological chemistry·2026

Prediction of cerebral hyperperfusion syndrome in adults with moyamoya disease after combined bypass surgery using perioperative hemodynamic and blood pressure changes.

Journal of neurosurgery·2026

Decoding Calcium Signaling: Functional Roles of Calmodulin and Calmodulin‑Like Proteins in Plant Development and Stress Responses.

Plant, cell & environment·2026

Senkyunolide I Inhibits mtDNA-cGAS-STING Signaling in Macrophages via Targeting VDAC1 Oligomerization to Attenuate Ulcerative Colitis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

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Two "new" treatable inherited biosynthetic disorders

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The complete European guidelines on phenylketonuria: diagnosis and treatment.

Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.

Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin.

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Genes, patients, families, doctors-mutation analysis in clinical practice.

Tolerance to fast: rational and practical evaluation in children with hypoketonaemia.

[177Lu]Lu-PSMA-617 in patients with PSMA-positive metastatic androgen pathway modulator-naive/sensitive prostate cancer (PSMAddition): a phase 3 randomised, controlled trial.

Multivessel coronary artery bypass grafting via small thoracotomy versus sternotomy (MIST): an investigator-initiated, international, open-label, randomised controlled trial.

Efficacy and safety of once-weekly subcutaneous zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Efficacy and safety of once-daily oral zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in adults with type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Zinc-Based bioMOF Nanocarrier for Curcumin Release Enables Permeation through Biomimetic Biological Membranes and Controlled Release.

Flavonoids in MASLD: preclinical mechanisms, pharmacological targets, and translational challenges.

Determinants of substrate specificity in mint pulegone reductase, a double bond reductase of the medium-chain dehydrogenase/reductase superfamily.

Prediction of cerebral hyperperfusion syndrome in adults with moyamoya disease after combined bypass surgery using perioperative hemodynamic and blood pressure changes.

Decoding Calcium Signaling: Functional Roles of Calmodulin and Calmodulin‑Like Proteins in Plant Development and Stress Responses.

Senkyunolide I Inhibits mtDNA-cGAS-STING Signaling in Macrophages via Targeting VDAC1 Oligomerization to Attenuate Ulcerative Colitis.

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Two "new" treatable inherited biosynthetic disorders

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