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List of works by Domingo González-Lamuño

6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype

scientific article

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients

scientific article published on 26 September 2013

Bone Status in Patients with Phenylketonuria: A Systematic Review

scientific article published on 20 July 2020

Cellular and animal models of skin alterations in the autism-related ADNP syndrome

scientific article published in Scientific Reports

Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]

scientific article published on 12 February 2015

Factors associated with grip strength among adolescents: An observational study

scientific article published on 29 November 2018

GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation

scientific article published on 22 April 2019

Henoch-Schönlein purpura in northern Spain: clinical spectrum of the disease in 417 patients from a single center

scientific article

Hypophosphataemic Rickets: Diagnosis Algorithm-How Not to Make a Mistake

scientific article published on 31 March 2020

Impact of APOE2allele on lipid profile change after a weight loss program

scientific article published on 01 March 2018

Influence of ADRB2 Gln27Glu and ADRB3 Trp64Arg polymorphisms on body weight and body composition changes after a controlled weight-loss intervention

scientific article published on 25 November 2015

Metabolic Serendipities of Expanded Newborn Screening

scientific article published on 29 August 2020

Modified Serum ALP Values and Timing of Apparition of Knee Epiphyseal Ossification Centers in Preterm Infants with Cholestasis and Risk of Concomitant Metabolic Bone Disease of Prematurity

scientific article published on 17 December 2020

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain

scientific article published on 21 March 2013

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

scientific article

New evidence for assessing tetrahydrobiopterin (BH(4)) responsiveness

scientific article published on 24 August 2012

PI SZ phenotype in chronic obstructive pulmonary disease ⬇️

scientific article published on July 1, 1997

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

scientific article published on 17 February 2019

Rehydration during exercise prevents the increase of homocysteine concentrations

scientific article published on 27 September 2018

Relapses in patients with Henoch-Schönlein purpura: Analysis of 417 patients from a single center

scientific article published on July 2016

Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening

scientific article published on 01 August 2018

Role of the monocarboxylate transporter MCT1 in the uptake of lactate during active recovery

scientific article published on 29 March 2016

Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations

scientific article

SpO2/FiO2 as a predictor of non-invasive ventilation failure in children with hypoxemic respiratory insufficiency.

scientific article published in September 2013

Strength plus Endurance Training and Individualized Diet Reduce Fat Mass in Overweight Subjects: A Randomized Clinical Trial

scientific article published on 10 April 2020

Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU.

scientific article published on 4 June 2013

The Effects of the Type of Exercise and Physical Activity on Eating Behavior and Body Composition in Overweight and Obese Subjects

scientific article published on 20 February 2020

The spectrum of paraneoplastic cutaneous vasculitis in a defined population: incidence and clinical features.

scientific article

[Neonatal abstinence syndrome: Management and therapy in 25 hospitals in Spain]

scientific article published on 11 March 2019

[Newborn screening for metabolic disorders in Spain and worldwide]

scientific article published on 21 June 2019

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