Nuria Segarra-Garcia

Lausanne, VD, Switzerland

Last Updated: 09/26/2026

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Found 12 publications

Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.

Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.

Journal: Orphanet journal of rare diseases

Published: July 01, 2022

Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.

Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.

Journal: Annals of clinical and translational neurology

Published: May 11, 2021

Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution.

Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution.

Journal: Neuromuscular disorders : NMD

Published: December 29, 2017

Long-term liver disease in methylmalonic and propionic acidemias.

Long-term liver disease in methylmalonic and propionic acidemias.

Journal: Molecular genetics and metabolism

Published: September 19, 2017

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Journal: Clinical genetics

Published: December 11, 2016

Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.

Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.

Journal: Acta ophthalmologica

Published: September 09, 2016

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.

Journal: Molecular genetics and metabolism

Published: June 14, 2016

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Journal: Orphanet journal of rare diseases

Published: March 19, 2014

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.

Journal: Journal of the neurological sciences

Published: December 09, 2013

Maternal and fetal tyrosinemia type I.

Maternal and fetal tyrosinemia type I.

Journal: Journal of inherited metabolic disease

Published: November 04, 2012

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 14, 2012

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 14, 2012

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Last Updated: 09/26/2026