Antenatal diagnosis of propionic acidaemia by methylcitrate determination

A novel 22bp deletion in a Tunisian phenylketonuria family.

Pathologie-biologie·2012

[Management of pre-analytical nonconformities].

Annales de biologie clinique·2011

[Guidelines relative to the collection and handling management of biological samples].

Annales de biologie clinique·2011

[Guidelines concerning stat laboratory process].

Annales de biologie clinique·2011

[Self assesment grid for pre-examination phase].

Annales de biologie clinique·2011

[Guidelines concerning sample reception and request recording of laboratory tests].

Annales de biologie clinique·2011

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Journal of inherited metabolic disease·2026

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Journal of inherited metabolic disease·2026

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

Journal of inherited metabolic disease·2026

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Journal of inherited metabolic disease·2026

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

Journal of inherited metabolic disease·2026

From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.

Journal of inherited metabolic disease·2026

A multidisciplinary team approach to a neonate with a rare primary mediastinal tumor: a case report.

Folia medica·2026

Non-invasive mechanical ventilation in children: a four-year retrospective review.

Folia medica·2026

Refractory Kawasaki Disease in Infants Complicated with Giant Coronary Artery Aneurysms and Takayasu Arteritis: A Rare Case Report and Literature Review.

Vascular health and risk management·2026

Preserved inflammatory homeostasis during emergency transport: a multibiomarker assessment of neonatal RDS transfers.

Turkish journal of medical sciences·2026

Recurrent Contralateral Parotitis With Initial Neonatal Onset: A Rare Case Report.

Cureus·2026

Clinical Characteristics and Surgical Outcomes of Paediatric Thyroid Disorders in a Nigerian Mission Hospital: A Nine-Year Review.

Nigerian medical journal : journal of the Nigeria Medical Association·2026

Related Experiment Videos

Antenatal diagnosis of propionic acidaemia by methylcitrate determination

Related Concept Videos

A novel 22bp deletion in a Tunisian phenylketonuria family.

[Management of pre-analytical nonconformities].

[Guidelines relative to the collection and handling management of biological samples].

[Guidelines concerning stat laboratory process].

[Self assesment grid for pre-examination phase].

[Guidelines concerning sample reception and request recording of laboratory tests].

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.

A multidisciplinary team approach to a neonate with a rare primary mediastinal tumor: a case report.

Non-invasive mechanical ventilation in children: a four-year retrospective review.

Refractory Kawasaki Disease in Infants Complicated with Giant Coronary Artery Aneurysms and Takayasu Arteritis: A Rare Case Report and Literature Review.

Preserved inflammatory homeostasis during emergency transport: a multibiomarker assessment of neonatal RDS transfers.

Recurrent Contralateral Parotitis With Initial Neonatal Onset: A Rare Case Report.

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Antenatal diagnosis of propionic acidaemia by methylcitrate determination

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