PUBLICACIONES SOBRE TEMAS RELATIVOS A ENFERMEDADES METABÓLICAS EN REVISTAS CIENTÍFICAS DESDE 2015

Año 2020

IDENTIFICATION OF A NOVEL VARIANT IN EARS2 ASSOCIATED WITH A SEVERE CLINICAL PHENOTYPE EXPANDS THE CLINICAL SPECTRUM OF LTBL

Barbosa-Gouveia S, González-Vioque  E, Hermida A, Suarez MA, Martínez-González MJ, Borges F , Wintjes L,  Kappen A , Rodenburg, Couce ML

Genes 2020; 11:1028

GALACTOKINASE DEFICIENCY: LESSONS FROM THE GALNET REGISTRY

Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT.71. Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT.

Genet Med 2020 Aug 18. doi: 10.1038/s41436-020-00942-9

RAPID PHENOTYPE-DRIVEN GENE SEQUENCING WITH THE NEOSEQ PANEL: A DIAGNOSTIC TOOL FOR CRITICALLY ILL NEWBORNS WITH SUSPECTED GENETIC DISEASE

De Castro MJ, González-Vioque E, Barbosa-Gouveia S, Salguero E, Segundo Rite S, López Suárez O, Pérez-Muñuzuri A, Couce ML70. De Castro MJ, González-Vioque E, Barbosa-Gouveia S, Salguero E, Segundo Rite S, López Suárez O, Pérez-Muñuzuri A, Couce ML

J Clin Med 2020; 9: 2362 

LONG-TERM EFFECTS OF MEDICAL MANAGEMENT ON GROWTH AND WEIGHT IN INDIVIDUALS WITH UREA CYCLE DISORDERS

Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) (Couce ML).69. Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) (Couce ML).

Sci Rep. 2020;10(1):11948.

BONE STATUS IN PATIENTS WITH PHENYLKETONURIA: A SYSTEMATIC REVIEW

De Castro MJ, De Lamas C, Sanchez-Pintos P, González-Lamuño D, Couce ML

Nutrients 2020;12:E2154

BONE SPECIFIC DRUG DELIVERY FOR OSTEOPOROSIS AND RARE SKELETAL DISORDERS

Sawamoto K, Álvarez JV, Herreño AM, Otero-Espinar FJ, Couce ML, Alméciga-Díaz CJ, Tomatsu S

Curr Osteoporos Rep 2020 Aug 26. doi: 10.1007/s11914-020-00620-4.

CONSENSUS GUIDELINE FOR THE DIAGNOSIS AND MANAGEMENT OF MANNOSE PHOSPHATE ISOMERASE-CONGENITAL DISORDER OF GLYCOSYLATION (MPI-CDG)

Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T.

J Inherit Metab Dis 2020; Apr 8. doi: 10.1002/jimd.12241.

MUCOPOLYSACCHARIDOSIS IVA: DIAGNOSIS, TREATMENT, AND MANAGEMENT

Sawamoto K, Álvarez González JV, Piechnik M , Otero FJ , Couce ML, Suzuki Y, Shunji Tomatsu S

Int J Mol Sci 2020; 20: 21:1517

PATTREC: AN EASY-TO-USE COPY NUMBER VARIATION DETECTION TOOL OPTIMIZED FOR TARGETED NEXT GENERATION SEQUENCING ASSAYS WITH DIAGNOSTIC PURPOSES.

Roca I, González-Castro L, Maynou J, Palacios L, Fernández H, Couce ML, Fernández-Marmiesse A

Genomics. 2020; 112:1245-1256. 

NON-ALCOHOLIC FATTY LIVER IN HEREDITARY FRUCTOSE INTOLERANCE

Aldámiz-Echebarria L, De las Heras J, Couce ML, Alcalde C, Vitoria I, Bueno M, Blasco J, García MC, Suarez R, Andrade F, Villate O

Clin Nutr 2020 Feb;39(2):455-459.

Año 2019

TRANSATLANTIC COMBINED AND COMPARATIVE DATA ANALYSIS OF 1095 PATIENTS WITH UREA CYCLE DISORDERS-A SUCCESSFUL STRATEGY FOR CLINICAL RESEARCH OF RARE DISEASES

Posset R, SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere, D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Ah Mew N, Batshaw ML, Baumgartner MR, McCandless S, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium (Couce ML)

J Inherit Metab Dis. 2019;42:93-106

PHENOTYPE, TREATMENT PRACTICE AND OUTCOME IN THE COBALAMIN-DEPENDENT REMETHYLATION DISORDERS AND MTHFR DEFICIENCY: DATA FROM THE E-HOD REGISTRY"

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, (Couce ML) .

J Inherit Metab Dis. 2019; 42(2):333-352.

FROM GESTALT TO GENE: EARLY PREDICTIVE DYSMORPHIC FEATURES OF PMM2-CDG

Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium (Couce ML).

J Med Genet 2019; 56(4):236-245.

VALUE OF GENETIC ANALYSIS FOR CONFIRMING INBORN ERRORS OF METABOLISM DETECTED THROUGH THE SPANISH NEONATAL SCREENING PROGRAM

Navarrete R, Lel F, Vega A, Morais A, García-Silva MT, Martín-Hernández E, Quijada P, Bergua A, Vives I, García-Jiménez I, Yahyaoui R, Pedrón-Giner C, Belanger-Quintana A, Stanescu S, Cañedo E, García-Campos O, Bueno M, Delgado C, Vitoria I, Rausell MD, Balmaseda E, Couce ML, Desviat L, Merinero B, Rodríguez-Pombo P, Ugarte M, Pérez-Cerdá C, Pérez B.

Eur J Hum Genet 2019; 27:556-562.

CLINICAL AND MOLECULAR DIAGNOSIS OF NON-PMM2 N-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION IN SPAIN.

Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez R, García Silva MT, G-Solana LG, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, MártinezBugallo F, Martín Viota L, Vitoria I, Lefeber D, Girós ML, Serrano M, Ugarte M, Perez B, Perez-Cerdá C.

Clin Genet. 2019 95(5):615-626

NEWBORN SCREENING FOR HOMOCYSTINURIAS: RECENT RECOMMENDATIONS VERSUS CURRENT PRACTICE.

Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) (Couce ML).

J Inherit Metab Dis.2019;42(1):128-139

BETAINE ANHYDROUS IN HOMOCYSTINURIA: RESULTS FROM THE ROCH REGISTRY

Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, García-Cazorla A, Martinez-Pardo Casanova M, Cano A, Couce ML, Dalmau J, Peña-Quintana L; Rigalleau V; Touati G; Aldamiz-Echevarria L; Cathebras P; Eyer D, Brunet D, Damaj L, Dobbelaere D, Claire Gay C; Hiéronimus S, Levrat V; Maillot F

Orphanet J Rare Dis 2019;14:66

FREE-ACCESS COPY-NUMBER VARIANT DETECTION TOOLS FOR TARGETED NEXT-GENERATION SEQUENCING DATA

Roca I, González-Castro L, Fernández H, Couce ML, Fernández-Marmiesse A

Mutat Res. 2019; 779:114-125

ASYMMETRIC DIMETHYL ARGININE AS A POTENTIAL BIOMARKER FOR MANAGEMENT AND FOLLOW-UP OF PHENYLKETONURIA

Andrade F, Villate O, Couce ML, Bueno M, Alcalde C , de las Heras J, Ceberio L, Núñez-Marcos S, Nambo PS, Aldámiz –Echevarría L.

Eur J Pediatr 2019, 178(6):903-911

 

NATURAL HISTORY OF DIETARY TREATED CLASSIC GALACTOSEMIA: LESSONS FROM THE GALNET REGISTRY

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT.

Orphanet J Rare Dis. 2019;14:86. 

 

AZATAX: ACETAZOLAMIDE SAFETY AND EFFICACY IN CEREBELLAR SYNDROME IN PMM2 CONGENITAL DISORDER OF GLYCOSYLATION (PMM2-CDG)

Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M and the CDG Spanish Consortium (Couce ML)

 Ann Neurol. 2019; 85(5):740-751.

 

TOWARDS THE AUTOMATED ECONOMIC ASSESSMENT OF NEWBORN SCREENING FOR RARE DISEASES

Prieto-González D, Castilla-Rodríguez I, González E, Couce ML.

 J Biomed Inform. 2019; 95:103216 .

 

RESEARCH ACTIVITY AND CAPABILITY IN THE EUROPEAN REFERENCE NETWORK METABERN

Heard JM, Bellettato C, van Lingen C, Scarpa M; MetabERN collaboration group (Couce ML).

Orphanet J Rare Dis. 2019;14(1):119

SEPTO-OPTIC DYSPLASIA CAUSED BY A NOVEL FLNA SPLICE SITE MUTATION: A CASE REPORT

Fernández-Marmiesse A, Pérez-Poyato MS, Fontalba A, Marco de Lucas E, Martínez MT, Cabero Pérez MJ, Couce ML

BMC Med Genet 2019;20:112

DISCOVERY OF BIOMARKER PANELS FOR NEURAL DYSFUNCTION IN INBORN ERRORS OF AMINO ACID METABOLISM

Castells A, Gueraldi D, Balada R, Tristán-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla S, De Los Santos M, Garcia-Volpe C, Colomé R, Couce ML, Sierra C, Ormazábal A, Batllori M, Artuch R, Armstrong J, Alcántara S,  Garcia-Cazorla  A.

Sci Reps 2019; 9(1):9128

EFFECTS OF LC-PUFA SUPPLEMENTATION IN PATIENTS WITH PHENYLKETONURIA: A SYSTEMATIC REVIEW OF CONTROLLED TRIALS

Couce ML, de Castro MJ, de Lamas C, leis R

Nutrients 2019; 11: 1537.

AUTOMATED THERAPY PREPARATION OF ISOLEUCINE FORMULATIONS USING 3D PRINTING FOR THE TREATMENT OF MSUD: FIRST SINGLE-CENTRE, PROSPECTIVE, CROSSOVER STUDY IN PATIENTS.

Goyanes A, Madla CM, Umerji A, Piñeiro GD, Montero JMG, Diaz MJL, Barcia MG, Taherali F, Sánchez-Pintos PCouce ML, Gaisford S, Basit AW.

Int J Pharm. 2019 Jul 4:118497. doi: 10.1016/j.ijpharm.2019.11849

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IDENTIFICATION AND CHARACTERIZATION OF NEW VARIANTS IN FOXRED1 GENE EXPANDS THE CLINICAL SPECTRUM ASSOCIATED WITH MITOCHONDRIAL COMPLEX I DEFICIENCY

Barbosa-Gouveia S, Borges F Borges F, Gutiérrez-Solana L, Wintjes L, Kappen A, van den 
Heuvel L, Leis R, Rodenburg R, Couce ML

J Clin Med 2019; 8: 1262

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SLEEP DISORDERS IN PHENYLKETONURIA

Couce ML

Eur J Pediatr Neurol 2019;23:670-71

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EVOLUTION OF TYROSINEMIA TYPE 1 DISEASE IN PATIENTS TREATED WITH NITISINONE IN SPAIN

Couce ML, Sánchez-Pintos P, Aldámiz-Echevarría L, Vitoria I, Navas V, Martín-Hernández E, García-Volpe C, Pintos G, Peña-Quintana L, Hernández T, Gil D, Sánchez-Valverde F, Bueno M,  Roca I,  López-Ruzafa E, Díaz-Fernández C

Medicine (Baltimore) 2019; 98:39

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PROTEOMIC ANALYSIS IN MORQUIO A CELLS TREATED WITH IMMOBILIZED ENZYMATIC REPLACEMENT THERAPY ON NANOSTRUCTURED LIPID SYSTEMS

Álvarez VJ, Bravo SB, García-Vence M, De Castro MJ, Luzardo A, Colón C, Tomatsu S, Otero-Espinar FJ, Couce ML.

Int J Mol Sci 2019; 20: 4610

.

ENZYME-LOADED GEL CORE NANOSTRUCTURED LIPID CARRIERS TO IMPROVE TREATMENT OF LYSOSOMAL STORAGE DISEASES: FORMULATION AND IN VITRO CELLULAR STUDIES OF ELOSULFASE ALFA- LOADED SYSTEMS

Álvarez JV, Herrero Filgueira C, González AF, Colón Mejeras C, Beiras Iglesias A, Tomatsu S, Blanco Méndez J, Luzardo Álvarez A, Couce ML, Otero Espinar FJ.

Pharmaceutics 2019;11(10):522.

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GENES AND VARIANTS UNDERLYING CONGENITAL LACTIC ACIDOSIS: FROM GENETICS TO PERSONALIZED TREATMENTS

Bravo-Alonso I, Navarrete R, Vega AI, Ruíz-Sala P, García Silva MT, Martín-Hernández E, Quijada-Fraile P, Belanger-Quintana A, Stanescu S, Bueno M, Vitoria I, Toledo L, Couce ML , García-Jiménez I, Ramos-Ruiz R , Martín MA , Desviat LR, Ugarte M,  Pérez-Cerdá C, Merinero B, Pérez B, Rodríguez-Pombo P

J Clin Med 2019; 8: 1811

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Año 2018

NGS TECHNOLOGIES AS A TURNING POINT IN RARE DISEASE RESEARCH, DIAGNOSIS, AND TREATMENT.

Fernández-Marmiesse A, Gouveia S, Couce ML.

Curr Med Chem. 2018;25.404-432

A NOVEL MISSENSE MUTATION IN GRIN2A CAUSES A NONEPILEPTIC NEURODEVELOPMENTAL DISORDER

Fernández-Marmiesse A, Kusumoto H, Rekarte S, Roca I, Zhang J, Myers SJ, Traynelis SF, Couce ML, Gutierrez-Solana L, Yuan H

Mov Disord 2018;33:992-999

PRIORITIZATION OF VARIANTS DETECTED BY NEXT GENERATION SEQUENCING ACCORDING TO THE MUTATION TOLERANCE AND MUTATIONAL ARCHITECTURE OF THE CORRESPONDING GENES

Roca I, Fernández-Marmiesse A, Gouveia S, Segovia M, Couce ML

Int J Mol Sci 2018; 19: 15

NEW CTSA MUTATION IN EARLY INFANTILE GALACTOSIALIDOSIS

Aldamiz-Echevarría L, Couce ML; Villate O; Fernández-Marmiesse A; Piñán MA

Pediatr Int 2018 Jul 10. doi: 10.1111/ped.13604

DIAGNOSIS AND FOLLOW-UP OF PATIENTS WITH HUNTER SYNDROME IN SPAIN: A DELPHI CONSENSUS

González-Gutiérrez-Solana L, Guillén-Navarro E, Del Toro M, Dalmau J, González-Meneses A, Couce ML

Medicine (Baltimore). 2018; 97: e11246

CARBOHYDRATE STATUS IN PATIENTS WITH PHENYLKETONURIA

Couce ML, Sánchez-Pintos P, Vitoria I, De Castro MJ, Aldámiz-Echevarría L, Correcher P, Fernández-Marmiesse A, Roca I, Hermida A, Martínez-Olmos M, Leis R.

Orphanet J Rare Dis. 2018;13(1):103.

IMPROVING THE DIAGNOSIS OF COBALAMIN AND RELATED DEFECTS BY GENOMIC ANALYSIS, PLUS FUNCTIONAL AND STRUCTURAL ASSESSMENT OF NOVEL VARIANTS.

Brasil S, Leal F, Vega A, Navarrete R, Ecay MJ, Desviat LR, Riera C, Padilla N, de la Cruz X, Couce ML, Martin-Hernández E, Morais A, Pedrón C, Peña-Quintana L, Rigoldi M, Specola N, de Almeida IT, Vives I, Yahyaoui R, Rodríguez-Pombo P, Ugarte M, Pérez-Cerda C, Merinero B, Pérez B.

Orphanet J Rare Dis. 2018;13(1):125.

CLINICAL ASSESSMENT OF DYSARTHRIA IN CHILDREN WITH CEREBELLAR SYNDROME ASSOCIATED WITH PMM2-CDG

Itzep D, Martínez-Monseny AF, Bolasell M, Cuadras D, Velázquez-Fragua R,. Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M, CDG Spanish-Consortium (Couce ML).

Neuropediatrics 2018; Oct 10. doi: 10.1055/s-0038-1673332

NEONATAL LETHAL HYPOPHOSPHATASIA: A CASE REPORT AND REVIEW OF LITERATURE

Castells L, Cassanello P, Muñiz F, de Castro MJ, Couce ML

Medicine (Baltimore) 2018 ;97(48):e13269

ELOSULFASE ALFA FOR MUCOPOLYSACCHARIDOSIS TYPE IVA: REAL WORLD EXPERIENCE IN SEVEN PATIENTS FROM THE SPANISH MORQUIO A EARLY ACCESS PROGRAM

Pintos-Morell G, Blasco-Alonso J, Couce ML, Gutierrez-Solana L, Guillen Navarro E, O Callaghan M, Del Toro M

Mol Genet Metab Rep 2018;15:116-20

Año 2017

NEWBORN SCREENING FOR FABRY DISEASE IN THE NORTH-WEST OF SPAIN.

Colón C, Ortolano S, Melcon C, Alvarez JV, Llopez-Suarez OE, Couce ML, Fernández-Lorenzo JR

 Eur J Pediatr 2017; 176:1075-1081

NONKETOTIC HYPERGLYCINEMIA: FUNCTIONAL ASSESSMENT OF MISSENSE VARIANTS IN <I>GLDC</I> TO UNDERSTAND PHENOTYPES OF THE DISEASE.

Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, García-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JL, Ugarte M, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P.

Hum Mutat 2017; 38:678-691. 

LONGITUDINAL VOLUMETRIC AND 2D ASSESSMENT OF CEREBELLAR ATROPHY IN A LARGE COHORT OF CHILDREN WITH PHOSPHOMANNOMUTASE DEFICIENCY (PMM2-CDG)

De Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium (Couce ML).

J Inherit Metab Dis 2017; 40: 709-713

A SELECTIVE SCREENING PROGRAM FOR THE EARLY DETECTION OF MUCOPOLYSACCHARIDOSIS: RESULTS OF THE FIND PROJECT—A 2-YEAR FOLLOW-UP STUDY.

Colón C, Álvarez-González JV, Castaño C, Gutierrez- Solana LG, Marquez AM, O´Callaghan M, Sánchez-Valverde F, Yeste C, Couce ML.

Medicine (Baltimore) 2017; 96: e6887

GUIDELINES FOR DIAGNOSIS AND MANAGEMENT OF THE COBALAMIN-RELATED REMETHYLATION DISORDERS CBLC, CBLD, CBLE, CBLF, CBLG, CBLJ AND MTHFR DEFICIENCY

Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, La Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C.

J Inherit Metab Dis 2017; 40: 21-48

HOMOZYGOUS TRUNCATING MUTATION IN PRENATALLY EXPRESSED SKELETAL ISOFORM (IC) OF TTN GENE RESULTS IN ARTHROGRYPOSIS MULTIPLEX CONGENITAL AND MYOPATHY WITHOUTH CARDIAC INVOLVEMENT

Fernández-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, Nascimento A, Ortez C, Romero N, Palacios L, Jimenez-mallebrera C, Jou C, Gouveia S, Couce ML.

Neuromuscular Disord 2017; 27: 188-192.

GENOTYPE AND PHENOTYPE CHARACTERIZATION IN A SPANISH COHORT WITH ISOVALERIC ACIDEMIA

Couce ML, Aldamiz-Echevarría L, Bueno MA, Barros P, Belanger-Quintana A, Blasco J, García-Silva MT, Márquez-Armenteros AM, Vitoria I, Vives I, Navarrete R, Fernández-Marmiesse A, Pérez B, Pérez-Cerdá C.

J Hum Genet.2017; 62: 355-60

CLINICAL AND GENETIC FEATURES OF 13 SPANISH PATIENTS WITH KCNQ2 MUTATIONS.

Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons C, Armstrong J, Barrios D, Díaz-Flores F, Tirado P, Couce ML, Gutiérrez-Solana LG.

J Hum Genet 2017;  62: 185- 189

RELEVANCE OF URINARY S100B PROTEIN LEVELS AS A SHORT-TERM PROGNOSTIC BIOMARKER IN ASPHYXIATED INFANTS TREATED WITH HYPOTHERMIA.

Alshweki A, Pérez-Muñuzuri A, López-Suárez O, Baña A, Couce ML.

Medicine (Baltimore). 2017; 96(44):e8453.

A QUANTITATIVE ASSESSMENT OF THE EVOLUTION OF CEREBELLAR SYNDROME IN CHILDREN WITH PHOSPHOMANNOMUTASE-DEFICIENCY (PMM2-CDG).

Serrano NL, De Diego V, Cuadras D, Martinez Monseny AF, Velázquez-Fragua R, López L, Felipe A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M, CDG Spanish-Consortium (Couce ML).

Orphanet J Rare Dis. 2017; 12: 155.

INFLUENCE OF PHENYLKETONURIA'S DIET ON DIMETHYLATED ARGININES AND METHYLATION CYCLE

Andrade F; López-Suárez O; Llarena M; Couce ML; Luis Aldámiz-Echevarría.

Medicine (Baltimore) 2017; 96: e7392.

ARTERIAL STIFFNESS ASSESSMENT IN PATIENTS WITH PHENYLKETONURIA

Hermida-Ameijeiras A, Crujeiras V, Roca I, Calvo C, Leis R, Couce ML

Medicine (Baltimore) 2017; 96: e9322.

INFANTILE-ONSET POMPE DISEASE WITH NEONATAL DEBUT: A CASE REPORT AND LITERATURE REVIEW.

Martínez M, Romero MG, Guereta LG, Cabrera M, Regojo RM, Albajara L, Couce ML, Pipaon MS.

Medicine (Baltimore) 2017; 96: e9186.

Año 2016

EVALUATION OF CARNITINE DEFICIT IN VERY LOW BIRTH WEIGHT PRETERM NEWBORNS SMALL FOR THEIR GESTATIONAL AGE

Sánchez-Pintos P, Pérez-Muñuzuri A, Cocho JÁ, Fernández-Lorenzo JR, Fraga JM, Couce ML

J Matern Fetal Neonatal 2016; 219: 933-937.

MOLECULAR EPIDEMIOLOGY, GENOTYPE-PHENOTYPE CORRELATION AND BH4 RESPONSIVENESS IN SPANISH PATIENTS WITH PHENYLKETONURIA.

Aldámiz-Echevarría L, Llarena M, Bueno MA, Dalmau J, Vitoria I, Fernández-Marmiesse A, Andrade F, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Ruiz MA, Peña-Quintana L, González D, Sánchez-Valverde F, Desviat LR, Pérez B, Couce ML.

J Hum Genet.2016; 61: 731-744.

AGE AT DISEASE ONSET AND PEAK AMMONIUM LEVEL RATHER THAN INTERVENTIONAL VARIABLES PREDICT THE NEUROLOGICAL OUTCOME IN UREA CYCLE DISORDERS.

Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2016; 39: 661-672

CARGLUMIC ACID ENHANCES RAPID AMMONIA DETOXIFICATION IN CLASSICAL ORGANIC ACIDURIAS WITH A FAVOURABLE RISK-BENEFIT PROFILE: A RETROSPECTIVE OBSERVATIONAL STUDY.

Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J, Chakrapani A.

Orphanet J Rare Dis 2016;11: 32

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IMPACT OF AGE AT ONSET AND NEWBORN SCREENING ON OUTCOME IN ORGANIC ACIDURIAS.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Baric I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, Cortes E, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut J, Walter JH, Zeman J,Chabrol B, Kolker S, additional individual contributors of the E-IMD consortium (Couce ML).

J Inherit Metab Dis 2016; 39: 341- 353

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LIPID PROFILE STATUS AND OTHER RELATED FACTORS IN PATIENTS WITH HYPERPHENYLALANINAEMIA.

Couce ML, Vitoria I, Aldámiz-Echevarría L, Fernández-marmiesse A, Roca I, Llarena M, Sánchez Pintos P, Leis R, Hermida A.

Orphanet J Rare Dis. 2016; 11: 123.

Año 2015

MUDD'S DISEASE (MAT I/III DEFICIENCY): A SURVEY OF DATA FOR MAT1A HOMOZYGOTES AND COMPOUND HETEROZYGOTES.

Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ.

Orphanet J Rare Dis. 2015; 10: 99.

EVOLUTION OF MAPLE SYRUP URINE DISEASE IN PATIENTS DIAGNOSED BY NEWBORN SCREENING VERSUS LATE DIAGNOSIS

Couce ML, Ramos F, Bueno MA, Díaz J, Meavilla S, Bóveda MD, Fernández-Marmiesse A, García- Cazorla A.

Eur J Pediatr Neurol 2015; 19: 652- 659.

VITAMIN AND MINERAL STATUS IN PATIENTS WITH HYPERPHENYLALANINEMIA

Crujeiras V, Aldámiz-Echevarría L, Dalmau J, Vitoria I, Andrade F, Roca I, Leis R, Fernández-Marmiesse A, Couce ML

Mol Genet Metab 2015; 115: 145- 150.

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THE PHENOYPIC SPECTRUM OF ORGANIC ACIDURIAS AND UREA CYCLE DISORDERS. PART 1: THE INITIAL PRESENTATION

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis 2015; 38: 1041-1057.

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THE PHENOTYPIC SPECTRUM OF ORGANIC ACIDURIAS AND UREA CYCLE DISORDERS. PART 2: THE EVOLVING CLINICAL PHENOTYPE

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG

J Inherit Metab Dis 2015; 38: 1059- 1074. 

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COST-EFFECTIVENESS ANALYSIS OF A NATIONAL NEWBORN SCREENING PROGRAM FOR BIOTINIDASE DEFICIENCY

Vallejo-Torres L, Castilla I, Couce ML; Pérez-Cerdá C; Martin-Hernandez E, Pineda M, Campistol J, Arrospide A, Morris S, Serrano-Aguilar P.

Pediatrics 2015; 136: 424- 432.

DIMETHYLARGININES AS BIOMARKERS FOR THE KIDNEY TRANSPLANT MANAGEMENT IN METHYLMALONIC ACIDURIA

Aldámiz-Echevarría L, Andrade F, Llarena M, De Las Heras J, Couce ML

Nephrology. 2015; 20: 576- 579.

6R-TETRAHYDROBIOPTERIN TREATED PKU PATIENTS BELOW 4 YEARS OF AGE: PHYSICAL OUTCOMES, NUTRITION AND GENOTYPE

Aldámiz-Echevarría L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, Llarena M, Andrade F, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Ruiz MA, Peña-Quintana L, González D, Sánchez-Valverde F

Mol Genet Metab. 2015; 115: 10- 16.

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SANFILIPPO SYNDROME: OVERALL REVIEW

Andrade F, Aldámiz-Echevarría LJ, Llarena M, Couce ML

Pediatr Int 2015; 57: 331-338. 

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NEW INSIGHTS IN GROWTH OF PHENYLKETONURIC PATIENTS

Couce ML, Guler I, Anca-Couce A, Lojo M, Mirás A, Leis R, Pérez-Muñuzuri A, Fraga JM, Gude F

Eur J Pediatr 2015; 174: 651- 659.

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