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List of works by Eva Morava

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

scientific article published on 13 August 2015

A guide to diagnosis and treatment of Leigh syndrome.

scientific article

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing

scientific article published on 04 August 2017

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

scientific article published on 27 May 2016

Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry

scientific article

Autosomal recessive cutis laxa syndrome revisited

scientific article

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

scientific article

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

scientific article

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

scientific article published on 19 March 2018

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

scientific article published on 16 November 2008

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

scientific journal article

Cantú syndrome is caused by mutations in ABCC9.

scientific article

Cardiac arrest in kearns-sayre syndrome

scientific article published on 6 September 2011

Causes of Death in Adults with Mitochondrial Disease

scientific article published on 10 September 2015

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

scientific article published on 01 April 2006

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

scientific article

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders

scientific article published in April 2018

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

scientific article

Cutis Laxa

scientific article published on January 2014

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

scientific article

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

scientific article published on 28 February 2014

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

scientific article

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

scientific article published on 17 May 2016

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

scientific article

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

scientific article published on 15 March 2017

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

scientific article published on 01 April 2007

Females with PDHA1 gene mutations: a diagnostic challenge.

scientific article

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

scientific article published on March 1, 2013

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

scientific article

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

scientific article published on 08 July 2012

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

scientific article published in August 2014

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

scientific article published on 24 August 2013

Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.

scientific article

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

scientific article published on 25 November 2019

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

scientific article

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

scientific article

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice

scientific article published on 01 June 2020

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

scientific article published on 10 May 2018

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

scientific article published on 01 January 2019

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect

scientific article

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

scientific article

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.

scientific article published on 31 October 2013

Lymphatic Edema in Congenital Disorders of Glycosylation

scientific article published on October 20, 2011

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

scientific article

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

scientific article published on 16 March 2006

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review

scientific article

Metabolic cutis laxa syndromes

scientific article published on March 23, 2011

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

scientific article published on 07 July 2012

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

scientific article

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome

scientific article published in April 2006

Mitochondrial energy production correlates with the age-related BMI.

scientific article

Multiple phenotypes in phosphoglucomutase 1 deficiency

scientific article

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

scientific article

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

scientific article published on 29 December 2016

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

scientific article published on 01 August 2020

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

scientific article

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

scientific article published on 4 May 2011

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

scientific article published on 17 May 2020

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

scientific article published in May 2008

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).

scientific article published on 7 November 2017

Oral D-galactose supplementation in PGM1-CDG.

scientific article published on 15 June 2017

PMM2-CDG caused by uniparental disomy: Case report and literature review

scientific article published on 28 April 2020

Perinatal and early infantile symptoms in congenital disorders of glycosylation

scientific article published on 07 February 2013

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

scientific article

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II

scientific article published on January 27, 2011

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

scientific article published on 25 January 2016

Provisional new syndrome of MR/MCA with evolving phenotype

scientific article

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

scientific article published on 10 August 2011

Recognizable phenotypes in CDG

scientific article published on 13 April 2018

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

scientific article published on 11 November 2019

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

Symptomatic lipid storage in carriers for the PNPLA2 gene

scientific article published on 12 December 2012

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

scientific journal article

The 3‐methylglutaconic acidurias: what's new?

scientific article published on September 30, 2010

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

scientific article

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

scientific article published on 19 September 2019

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

scientific article

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

scientific article published on 4 February 2015

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

scientific article published on 27 April 2021

Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.

scientific article

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity

scientific article published on 01 April 2020