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1.
Orphanet J Rare Dis ; 13(1): 103, 2018 06 27.
Artículo en Inglés | MEDLINE | ID: mdl-29945661

RESUMEN

BACKGROUND: In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known about how these molecules are metabolized in this setting. The objective of the present study was to analyze carbohydrate metabolism in patients with hyperphenylalaninemia. METHODS: We conducted a multicenter cross-sectional study to investigate biochemical markers of basal and postprandial carbohydrate metabolism in PKU patients according to age, Phe tolerance, waist circumference and body mass index (BMI), diet, tetrahydrobiopterin (BH4) supplementation, and adherence to treatment. Basal biomarkers and anthropometric parameters were also evaluated in patients with mild hyperphenylalaninemia (MHPA) and in healthy controls. RESULTS: A total of 83 patients aged 4-52 years were studied; 68.7% had PKU and 31.3% had MHPA. 68 healthy controls of similar sex and age were also evaluated Metabolic control was adequate in 71.9% of PKU patients. Fasting glucose levels (mean 80.77 ± 8.06 mg/dL) were high in just one patient, but fasting insulin levels, with a mean of 12.74 ± 8.4 mIU/L, were altered in 15 PKU patients (26.3%) and markedly higher than in patients with MPHA (p = 0.035). Fasting insulin levels and Homeostasis Model Assessment Insulin Resistance (HOMA-IR) were significantly higher than in healthy controls and correlated with body mass index, waist circumference, age, and also showed statistically significant differences according to diagnosis and Phe tolerance (p < 0.05). Patients under BH4 therapy had lower insulin levels and HOMA-IR. A higher mean carbohydrate intake from AA mixtures was observed in classic PKU patients. The caloric intake in the form of carbohydrates was also higher in PKU than MHPA patients (p = 0.038) and it was correlated with basal insulin (rho = 0.468, p = 0.006), HOMA-IR (rho = 0.423, p = 0.02), BMI (rho 0.533, p = 0.002), and waist circumference (rho 0.584, p = 0.0007). CONCLUSIONS: This study shows that PKU patients are at risk of carbohydrate intolerance and insulin resistance, more evident in adults and overweight patients, probably related to their higher caloric intake in form carbohydrate content. A higher dependency of AA mixtures was demonstrated in PKU patients.


Asunto(s)
Fenilcetonurias/metabolismo , Adolescente , Adulto , Aminoácidos/metabolismo , Biopterinas/análogos & derivados , Biopterinas/metabolismo , Índice de Masa Corporal , Metabolismo de los Hidratos de Carbono/efectos de los fármacos , Niño , Preescolar , Estudios Transversales , Suplementos Dietéticos , Femenino , Humanos , Resistencia a la Insulina/fisiología , Masculino , Persona de Mediana Edad , Estudios Multicéntricos como Asunto , Fenilalanina/metabolismo , Periodo Posprandial , Adulto Joven
2.
Orphanet J Rare Dis ; 11(1): 123, 2016 09 09.
Artículo en Inglés | MEDLINE | ID: mdl-27612877

RESUMEN

BACKGROUND: The mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods. This PKU diet seems to reduce atherogenesis and confer protection against cardiovascular diseases but the results from the few published studies have been inconclusive. The aim of our study was to evaluate the relationship between the lipid profile and several treatment-related risk factors in patients with hyperphenylalaninaemia (HPA) in order to optimize their monitoring. METHODS: We conducted a cross-sectional multicentre study. A total of 141 patients with HPA were classified according to age, phenotype, type of treatment and dietary adherence. Annual median blood phenylalanine (Phe) levels, Phe tolerance, anthropometric measurements, blood pressure (BP) and biochemical parameters [(triglycerides, total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), apolipoprotein A (ApoA), apolipoprotein B (ApoB), vitamin B12, total homocysteine (tHcy), Methionine (Met), high sensitivity C-Reactive Protein (hsCRP)] were collected for each patient. RESULTS: Plasma TC levels were lower in patients with PKU than in the mild-HPA group (150 ± 31 vs. 164 ± 22 mg/dL), and there was a weak inverse correlation between plasma TC and Phe levels. HDL-C, LDL-C, ApoA and ApoB levels were lower in the PKU group than in mild-HPA. Patients with PKU had higher systolic BP than the mild-HPA group and there was found a quadratic correlation between median Phe levels and systolic BP (p = 6.42e(-5)) and a linear correlation between median Phe levels and diastolic BP (p = 5.65e(-4)). In overweight or obese PKU patients (24.11 %), biochemical parameters such as TC, triglycerides, LDL-C, tHcy, hsCRP and BP were higher. By contrast, HDL-C was lower in these patients. CONCLUSION: Our data show a direct correlation between lipid profile parameters and good adherence to the diet in PKU patients. However, lipid profile in overweight or obese patients displayed an atherogenic profile, in addition to higher hsCRP concentrations and BP. Our study contributes to a better understanding of the relationship between phenotype and treatment in patients with HPA, which could be useful in improving follow-up strategies and clinical outcome. TRIAL REGISTRATION: Research Ethics Committee of Santiago-Lugo 2015/393. Registered 22 September 2015, retrospectively registered.


Asunto(s)
Lípidos/sangre , Fenilcetonurias/sangre , Apolipoproteínas A/sangre , Apolipoproteínas B/sangre , Presión Sanguínea/fisiología , Proteína C-Reactiva/metabolismo , Colesterol/sangre , HDL-Colesterol/sangre , LDL-Colesterol/sangre , Enfermedad Coronaria/sangre , Estudios Transversales , Femenino , Homocisteína/sangre , Humanos , Masculino , Metionina/sangre , Factores de Riesgo , Triglicéridos/sangre , Vitamina B 12/sangre
3.
Pediatrics ; 137(2): e20152781, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26783325

RESUMEN

Scurvy is a rare disease in developed countries. Risk groups include children with restricted diets, mainly patients who are autistic or have cerebral palsy. Furthermore, consumption of plant-based beverages has increased in recent years, especially in developed countries. When plant-based beverages are the exclusive diet in the first year of life and not consumed as a supplement to formula or breastfeeding, it can result in severe nutritional problems. We report a case of scurvy after exclusive intake of almond beverages and almond flour from 2.5 to 11.0 months of life. The patient was referred for pathologic fractures of the femur, irritability, and failure to thrive. He had typical radiologic signs of scurvy, such as osteopenia, cortical thinning, Wimberger ring, Frankel line, fracture, and periosteal reaction. Moreover, his plasmatic vitamin C level was very low. The child was diagnosed with scurvy and was started on vitamin C replacement therapy at a dose of 300 mg per day. Over the following 3 months, his general condition, the pain in the legs, and the radiologic features improved; the plasmatic vitamin C level was normalized; and the child started walking. In summary, this case demonstrates that scurvy is a new and severe complication of improper use of almond drinks in the first year of life. Manufacturers should indicate that these beverages are inappropriate for infants who consume a vitamin C-deficient diet.


Asunto(s)
Dieta/efectos adversos , Escorbuto/etiología , Bebidas , Enfermedades Óseas Metabólicas/etiología , Insuficiencia de Crecimiento/etiología , Fracturas del Fémur/etiología , Harina , Humanos , Lactante , Genio Irritable , Masculino , Prunus dulcis , Deficiencia de Vitamina D/etiología
4.
Data Brief ; 4: 614-21, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26322328

RESUMEN

The data presented here are the biochemical parameters of 156 patients with hyperphenylalaninemia. PKU patients, who, in order to maintain optimal serum Phe concentrations, receive dietary treatment consisting of a diet low in natural protein supplemented with special low protein foods and a Phe-free amino acid mixture, vitamins and minerals. The obtained data reflects a high percentage of patients with prealbumin and selenium deficiencies, as well as an increased level of folic acid. This data article is related to the research article entitled, "Vitamin and mineral status in patients with hyperphenylalaninemia", by Crujeiras et al. [1].

5.
Mol Genet Metab ; 115(4): 145-50, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26123187

RESUMEN

Natural sources of protein and some vitamins and minerals are limited in phenylketonuria (PKU) treated patients, who should receive optimal supplementation although this is not yet fully established. We conducted a cross-sectional observational multicenter study including 156 patients with hyperphenylalaninemia. Patients were stratified by age, phenotype, disease detection and type of treatment. Annual median blood phenylalanine (Phe) levels, Phe tolerance, anthropometric measurements, and biochemical parameters (total protein, prealbumin, electrolytes, selenium, zinc, B12, folic acid, ferritin, 25-OH vitamin D) were collected in all patients. 81.4% of patients had biochemical markers out of recommended range but no clinical symptoms. Total protein, calcium, phosphorus, B12, ferritin, and zinc levels were normal in most patients. Prealbumin was reduced in 34.6% of patients (74% with PKU phenotype and 94% below 18 years old), showing almost all (96.3%) an adequate adherence to diet. Selenium was diminished in 25% of patients (95% with PKU phenotype) and also 25-OHD in 14%. Surprisingly, folic acid levels were increased in 39% of patients, 66% with classic PKU. Phosphorus and B12 levels were found diminished in patients with low adherence to diet. Patients under BH4 therapy only showed significant lower levels of B12. This study shows a high percentage of prealbumin and selenium deficiencies as well as an increased level of folic acid in PKU treated patients, which should lead us to assess an adjustment for standards supplements formulated milks.


Asunto(s)
Minerales/metabolismo , Fenilcetonurias/metabolismo , Vitaminas/metabolismo , Adolescente , Adulto , Niño , Preescolar , Dieta , Suplementos Dietéticos , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Prealbúmina/metabolismo , Adulto Joven
6.
Nutr. hosp ; Nutr. hosp. (Internet);31(5): 2297-2312, mayo 2015. ilus, tab
Artículo en Inglés | IBECS | ID: ibc-140404

RESUMEN

Introduction: An appropriate magnesium intake has proved to have beneficial effects on bone health, reduce insulin resistance and prevent atherosclerosis. Objective: To determine the concentration of magnesium in drinking water and bottled mineral water in Spain and assess its daily contribution to dietary recommendations. Methods: We used ion chromatography to analyse the magnesium concentrations of public drinking waters in a representative sample of 108 Spanish municipalities (supplying 21,290,707 potential individuals) and 109 natural mineral waters sold in Spain (97 Spanish and 12 imported). Results: The water generally contained between 15 and 45 mg/L of magnesium, but in seven municipalities it contained over 45 mg/L. The average magnesium concentration of 97 brands of Spanish natural mineral water was 16.27 mg/L (range: 0.11-141.2 mg/L). Of these, 33 contained between 15 and 45 mg/L of magnesium and four contained over 45 mg/L. Of the 12 imported brands, 4 contained over 45 mg/L. Assuming water consumption is as recommended by the European Food Safety Agency, water containing 15 to 45 mg/L of magnesium provides between 9 and 76.5% of the recommended intake of magnesium for children aged one to thirteen, up to 25.7% in adolescents, between 7.5 and 25.7% for adults, and up to 27% for lactating women. Water with 60 mg/L of magnesium provides between 30 and 102% of the recommended dietary allowance, depending on the age of the individual. Discussion: The consumption of public drinking water and natural mineral water in a third of Spanish cities can be regarded as an important supplementary source of magnesium (AU)


Introducción: Una adecuada ingesta de magnesio condiciona una buena salud ósea y previene y la resistencia a la insulina y la arteriosclerosis. Objetivo: Determinar el contenido en magnesio en aguas de bebida en España y valorar su contribución diaria a las ingestas recomendadas de este mineral. Métodos: En 2012 se analizaron por cromatografía ió- nica las concentraciones de magnesio de distintas aguas de consumo público en una muestra representativa de 108 poblaciones españolas que abastecen a 21.290.707 personas, así como de 109 aguas minerales naturales embotelladas comercializadas en España (97 españolas y 12 importadas). Resultados: La concentración media de magnesio en aguas de consumo público fue de 14,65±16,23 mg/L (rango: 0,07-70,08 mg/L). En 25 poblaciones el agua contenía 15-45 mg/L de magnesio y en 7 fue superior a 45 mg/L. La concentración media de magnesio de las 97 marcas españolas de aguas fue 16,27 mg/L (rango: 0,11-141,2 mg/L), 33 de ellas contenían 15-45 mg/L de magnesio, mientras que en 4 de ellas era mayor de 45 mg/L. De las 12 marcas importadas, 4 contenían más de 45 mg/L. Asumiendo la cantidad de ingesta de agua recomendada por la EFSA, si el agua contiene 15-45 mg/L de magnesio, ésta aportaría entre el 9 y el 76,5% de la ingesta de magnesio recomendada para los niños de 1-13 años, hasta el 25,7% en adolescentes, entre 7,5 y 25,7% en adultos, y hasta el 27% en lactantes. El agua conteniendo 60 mg/L de magnesio aportaría entre el 30 y el 102% de las recomendaciones según la edad. Discusión: El agua de consumo público de un tercio de ciudades españolas y de aguas minerales naturales puede ser considerada como una fuente complementaria importante de magnesio ingerido (AU)


Asunto(s)
Humanos , 24961 , Agua Potable/análisis , Agua Potable/análisis , Magnesio/análisis , Necesidades Nutricionales , Ablandamiento del Agua/métodos , España
7.
Nutr Hosp ; 31(5): 2297-312, 2015 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-25929407

RESUMEN

INTRODUCTION: An appropriate magnesium intake has proved to have beneficial effects on bone health, reduce insulin resistance and prevent atherosclerosis. OBJECTIVE: To determine the concentration of magnesium in drinking water and bottled mineral water in Spain and assess its daily contribution to dietary recommendations. METHODS: We used ion chromatography to analyse the magnesium concentrations of public drinking waters in a representative sample of 108 Spanish municipalities (supplying 21,290,707 potential individuals) and 109 natural mineral waters sold in Spain (97 Spanish and 12 imported). RESULTS: The water generally contained between 15 and 45 mg/L of magnesium, but in seven municipalities it contained over 45 mg/L. The average magnesium concentration of 97 brands of Spanish natural mineral water was 16.27 mg/L (range: 0.11-141.2 mg/L). Of these, 33 contained between 15 and 45 mg/L of magnesium and four contained over 45 mg/L. Of the 12 imported brands, 4 contained over 45 mg/L. Assuming water consumption is as recommended by the European Food Safety Agency, water containing 15 to 45 mg/L of magnesium provides between 9 and 76.5% of the recommended intake of magnesium for children aged one to thirteen, up to 25.7% in adolescents, between 7.5 and 25.7% for adults, and up to 27% for lactating women. Water with 60 mg/L of magnesium provides between 30 and 102% of the recommended dietary allowance, depending on the age of the individual. DISCUSSION: The consumption of public drinking water and natural mineral water in a third of Spanish cities can be regarded as an important supplementary source of magnesium.


Introducción: Una adecuada ingesta de magnesio condiciona una buena salud ósea y previene y la resistencia a la insulina y la arteriosclerosis. Objetivo: Determinar el contenido en magnesio en aguas de bebida en España y valorar su contribución diaria a las ingestas recomendadas de este mineral. Métodos: En 2012 se analizaron por cromatografía iónica las concentraciones de magnesio de distintas aguas de consumo público en una muestra representativa de 108 poblaciones españolas que abastecen a 21.290.707 personas, así como de 109 aguas minerales naturales embotelladas comercializadas en España (97 españolas y 12 importadas). Resultados: La concentración media de magnesio en aguas de consumo público fue de 14,65±16,23 mg/L (rango: 0,07-70,08 mg/L). En 25 poblaciones el agua contenía 15-45 mg/L de magnesio y en 7 fue superior a 45 mg/L. La concentración media de magnesio de las 97 marcas españolas de aguas fue 16,27 mg/L (rango: 0,11-141,2 mg/L), 33 de ellas contenían 15-45 mg/L de magnesio, mientras que en 4 de ellas era mayor de 45 mg/L. De las 12 marcas importadas, 4 contenían más de 45 mg/L. Asumiendo la cantidad de ingesta de agua recomendada por la EFSA, si el agua contiene 15-45 mg/L de magnesio, ésta aportaría entre el 9 y el 76,5% de la ingesta de magnesio recomendada para los niños de 1-13 años, hasta el 25,7% en adolescentes, entre 7,5 y 25,7% en adultos, y hasta el 27% en lactantes. El agua conteniendo 60 mg/L de magnesio aportaría entre el 30 y el 102% de las recomendaciones según la edad. Discusión: El agua de consumo público de un tercio de ciudades españolas y de aguas minerales naturales puede ser considerada como una fuente complementaria importante de magnesio ingerido.


Asunto(s)
Agua Potable/análisis , Magnesio/análisis , Aguas Minerales/análisis , Necesidades Nutricionales , Abastecimiento de Agua , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Cromatografía por Intercambio Iónico , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Embarazo , España , Adulto Joven
8.
Nutr Hosp ; 30(1): 188-99, 2014 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-25137280

RESUMEN

INTRODUCTION: A sufficient intake of calcium enables correct bone mineralization. The bioavailability of calcium in water is similar to that in milk. OBJECTIVE: To determine the concentration of calcium in public drinking water and bottled mineral water. METHODS: We used ion chromatography to analyse the calcium concentrations of public drinking waters in a representative sample of 108 Spanish municipalities (21,290,707 people) and of 109 natural mineral waters sold in Spain, 97 of which were produced in Spain and 12 of which were imported. RESULTS: The average calcium concentration of public drinking waters was 38.96 ± 32.44 mg/L (range: 0.40- 159.68 mg/L). In 27 municipalities, the water contained 50-100 mg/L of calcium and in six municipalities it contained over 100 mg/L. The average calcium concentration of the 97 Spanish natural mineral water brands was 39.6 mg/L (range: 0.6-610.1 mg/L). Of these, 34 contained 50-100 mg/L of calcium and six contained over 100 mg/L. Of the 12 imported brands, 10 contained over 50 mg/L. Assuming water consumption is as recommended, water containing 50-100 mg/L of calcium provides 5.4-12.8% of the recommended intake of calcium for children aged one to thirteen, up to 13.6% for adolescents, 5.8-17.6% for adults, and up to 20.8% for lactating mothers. Water with 100-150 mg/L of calcium provides 10-31% of the recommended dietary allowance, depending on the age of the individual. DISCUSSION: Public drinking water and natural mineral water consumption in a third of Spanish cities can be considered an important complementary source of calcium.


INTRODUCCIÓN: Una adecuada ingesta de calcio condiciona una buena mineralización ósea. OBJETIVO: Determinar el contenido en calcio en aguas de bebida. MÉTODOS: En 2012 se analizaron las concentraciones de calcio, por cromatografía iónica, de aguas de consumo público de una muestra representativa de 108 poblaciones españolas que abastecen a 21.290.707 personas, así como de 109 aguas minerales naturales comercializadas en España (97 españolas y 12 importadas). RESULTADOS: La concentración media de calcio en aguas de consumo público fue de 38,96 ± 32,44 mg/L (rango: 0,40-159,68 mg/L). En 27 poblaciones el agua contiene entre 50-100 mg/L de calcio y en 6 fue superior a 100 mg/L. La concentración media de calcio de las 97 marcas españolas de aguas fue de 39,6 mg/L (rango: 0,6-610,1 mg/L), 34 de ellas contenían entre 50-100 mg/L de calcio, mientras que en 6 de ellas más de 100 mg/L. De las 12 marcas importadas, 10 contenían más de 50 mg/L. Asumiendo una ingesta de agua recomendada, si el agua contiene entre 50-100 mg/L de calcio, ésta aportaría entre 5,4-12,8% de la ingesta de calcio recomendada para los niños de 1-13 años, hasta el 13,6% en adolescentes, entre 5,8-17,6% en adultos, y hasta el 20,8% en madres lactantes. El agua conteniendo 100-150 mg/L de calcio aportaría entre 10- 31% de las recomendaciones según la edad. DISCUSIÓN: El agua de consumo público de un tercio de ciudades españolas y de aguas minerales naturales puede ser considerada como una fuente complementaria importante de calcio ingerido.


Asunto(s)
Calcio/análisis , Agua Potable/química , Aguas Minerales/análisis , Ingesta Diaria Recomendada , Adolescente , Adulto , Calcio de la Dieta , Niño , Preescolar , Ingestión de Líquidos , Femenino , Humanos , Lactante , Masculino , España
9.
Mol Genet Metab ; 110(1-2): 181-3, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23835251

RESUMEN

We report citrin deficiency in a neonatal non-East-Asian patient, the ninth Caucasian reported with this disease. The association of intrahepatic cholestasis, galactosuria, very high alpha-fetoprotein and increased plasma and urine citrulline, tyrosine, methionine and threonine levels suggested citrin deficiency. Identification of a protein-truncating mutation (c.1078C>T; p.Arg360*) in the SLC25A13 gene confirmed the diagnosis. An immediate response to a high-protein, lactose-free, low-carbohydrate formula was observed. Our report illustrates the need for awareness on citrin deficiency in Western countries.


Asunto(s)
Proteínas de Unión al Calcio/deficiencia , Proteínas de Unión al Calcio/genética , Dietoterapia , Proteínas de Transporte de Membrana Mitocondrial/genética , Transportadores de Anión Orgánico/deficiencia , Transportadores de Anión Orgánico/genética , Pueblo Asiatico/genética , Proteínas de Unión al Calcio/sangre , Proteínas de Unión al Calcio/orina , Citrulina/sangre , Citrulina/orina , Humanos , Metionina/sangre , Metionina/orina , Mutación , Transportadores de Anión Orgánico/sangre , Transportadores de Anión Orgánico/orina , Rumanía , España , Treonina/sangre , Treonina/orina , Tirosina/sangre , Tirosina/orina , Población Blanca/genética
10.
Mol Genet Metab ; 109(4): 331-8, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23810227

RESUMEN

BACKGROUND: Treatment of phenylketonuria based upon strict vegetarian diets, with very low phenylalanine intake and supplemented by phenylalanine-free formula, has proven to be effective in preventing the development of long-term neurological sequelae due to phenylalanine accumulation. On the other hand, such diets have occasionally been reported to hinder normal development, some individuals presenting with growth retardation. Tetrahydrobiopterin therapy has opened up new treatment options for a significant proportion of phenylketonuric patients, enabling them to eat normal diets and be freed from the need to take synthetic supplements. However, little is known about how this therapy affects their physical development. METHODS: We conducted a retrospective longitudinal study examining anthropometric characteristics (height, weight, body mass index and growth speed Z-scores) in a cohort of phenylketonuric patients on tetrahydrobiopterin therapy (38 subjects) comparing their characteristics with those of a group of phenylketonuric patients on phenylalanine-restricted diets (76 subjects). Nutritional issues were also considered, to further explore the possibility of higher natural protein intake being associated with better physical development. Data were collected every six months over two different periods of time (two or five years). RESULTS: No improvement was observed in the aforementioned anthropometric variables in the cohort on tetrahydrobiopterin therapy, from prior to starting treatment to when they had been taking the drug for two or five years. Rather, in almost all cases there was a fall in the mean Z-score for the variables during these periods, although the changes were not significant in any case. Further, we found no statistically differences between the two groups at any considered time point. Growth impairment was also noted in the phenylketonuric patients on low-phenylalanine diets. Individuals on tetrahydrobiopterin therapy increased their natural protein intake and, in some instances, this treatment enabled individuals to eat normal diets, with protein intake meeting RDAs. No association was found, however, between higher protein intake and growth. CONCLUSION: Our study identified growth impairment in patients with phenylketonuria on tetrahydrobiopterin, despite higher intakes of natural proteins. In fact, individuals undergoing long-term tetrahydrobiopterin treatment seemed to achieve similar developmental outcomes to those attained by individuals on more restricted diets.


Asunto(s)
Biopterinas/análogos & derivados , Dieta , Fenilalanina/metabolismo , Fenilcetonurias/dietoterapia , Biopterinas/administración & dosificación , Composición Corporal/efectos de los fármacos , Estatura/efectos de los fármacos , Índice de Masa Corporal , Peso Corporal/efectos de los fármacos , Estudios de Seguimiento , Humanos , Fenilalanina/administración & dosificación , Fenilcetonurias/patología
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