Your search returned 73 results.

Results
	1.	Reply-Letter to the Editor-Is liver steatosis diagnostic of non-alcoholic fatty liver disease in patients with hereditary fructose intolerance? [electronic resource] by Aldamiz-Echevarria, Luis Villate, Olatz Producer: 20200113 In: Clinical nutrition (Edinburgh, Scotland) vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Asymmetric dimethylarginine, endothelial dysfunction and renal disease. [electronic resource] by Aldámiz-Echevarría, Luis Andrade, Fernando Producer: 20151022 In: International journal of molecular sciences vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant. [electronic resource] by Arranz, Leonor Aldamiz-Echevarria, Luis Producer: 20160303 In: Molecular genetics and metabolism reports vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Quantification of arginine and its methylated derivatives in healthy children by liquid chromatography-tandem mass spectrometry. [electronic resource] by Andrade, Fernando Llarena, Marta Lage, Sergio Aldámiz-Echevarría, Luis Producer: 20151104 In: Journal of chromatographic science vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Frontoparietal Subdural Hematoma in a Child With Mental Regression. [electronic resource] by de Las Heras, Javier Aldámiz-Echevarría, Luis Cabrera, Alberto Producer: 20190924 In: JAMA neurology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A new case of maternal phenylketonuria treated with sapropterin dihydrochloride (6R-BH4). [electronic resource] by Aldámiz-Echevarría, Luis Couce, Maria L Llarena, Marta Andrade, Fernando Producer: 20150608 In: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Determination of free and total carnitine in plasma by an enzymatic reaction and spectrophotometric quantitation spectrophotometric determination of carnitine. [electronic resource] by Prieto, José A Andrade, Fernando Aldámiz-Echevarría, Luis Sanjurjo, Pablo Producer: 20061121 In: Clinical biochemistry vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Sanfilippo syndrome: Overall review. [electronic resource] by Andrade, Fernando Aldámiz-Echevarría, Luis Llarena, Marta Couce, María Luz Producer: 20161213 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Comparison of plasma and dry blood spots as samples for the determination of nitisinone (NTBC) by high-performance liquid chromatography-tandem mass spectrometry. Study of the stability of the samples at different temperatures. [electronic resource] by Prieto, José A Andrade, Fernando Lage, Sergio Aldámiz-Echevarría, Luís Producer: 20110721 In: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences vol. 879 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives. [electronic resource] by Peña-Quintana, Luis Llarena, Marta Reyes-Suárez, Desiderio Aldámiz-Echevarria, Luis Publication details: Patient preference and adherence 2017 In: Patient preference and adherence vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	[When rare diseases become urgent: inborn errors of metabolism in primary care]. [electronic resource] by González-Lamuño, Domingo Couce, María Luz Amor Bueno, María Aldámiz-Echevarría, Luis Producer: 20090930 In: Atencion primaria vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle. [electronic resource] by Andrade, Fernando López-Suárez, Olalla Llarena, Marta Couce, María L Aldámiz-Echevarría, Luis Producer: 20170717 In: Medicine vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Optic neuropathy in methylmalonic acidemia: the role of neuroprotection. [electronic resource] by Pinar-Sueiro, Sergio Martínez-Fernández, Ricardo Lage-Medina, Sergio Aldamiz-Echevarria, Luis Vecino, Elena Producer: 20140408 In: Journal of inherited metabolic disease vol. 33 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	New CTSA mutation in early infantile galactosialidosis. [electronic resource] by Aldámiz-Echevarría, Luis Couce, M Luz Villate, Olatz Fernández-Marmiesse, Ana Piñán, M Ángeles Producer: 20181024 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria. [electronic resource] by Aldámiz-Echevarria, Luis Andrade, Fernando Llarena, Marta de Las Heras, Javier Couce, María Luz Producer: 20160421 In: Nephrology (Carlton, Vic.) vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome. [electronic resource] by Couce, Maria Luz Dalmau, Jaime del Toro, Mireia Pintos-Morell, Guillem Aldámiz-Echevarría, Luís Producer: 20120522 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Stability of urinary glycosaminoglycans in patients with mucopolysaccharidoses. [electronic resource] by Andrade, Fernando Prieto, José Angel Elorz, Javier Martín, Sergio Sanjurjo, Pablo Aldámiz-Echevarría, Luis Producer: 20080327 In: Clinica chimica acta; international journal of clinical chemistry vol. 388 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Determination of creatine and guanidinoacetate by GC-MS: study of their stability in urine at different temperatures. [electronic resource] by Prieto, José Angel Andrade, Fernando Martín, Sergio Sanjurjo, Pablo Elorz, Javier Aldámiz-Echevarría, Luís Producer: 20090420 In: Clinical biochemistry vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease. [electronic resource] by De Las Heras, Javier Aldámiz-Echevarría, Luis Martínez-Chantar, María-Luz Delgado, Teresa C Producer: 20170404 In: Expert opinion on drug metabolism & toxicology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Abnormalities in plasma fatty acid composition in human immunodeficiency virus-infected children treated with protease inhibitors. [electronic resource] by Aldámiz-Echevarría, Luis Pocheville, Itziar Sanjurjo, Pablo Elorz, Javier Prieto, Jose Angel Rodríguez-Soriano, Juan Producer: 20051014 In: Acta paediatrica (Oslo, Norway : 1992) vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

1
2
3
4
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 73 results.