Detalhe da pesquisa
1.
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.
J Inherit Metab Dis
; 46(2): 261-272, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564894
2.
Validity and Reliability of a Nutritional Screening Tool (SCAN) in Children Newly Diagnosed with Cancer.
Nutr Cancer
; 74(5): 1754-1765, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490807
3.
Transcriptomic profile of epileptic children treated with ketogenic therapies.
J Integr Neurosci
; 21(1): 31, 2022 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35164467
4.
Malnutrition in children with ichthyosis: Recommendations for monitoring from a multidisciplinary clinic experience.
J Am Acad Dermatol
; 85(1): 144-151, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32585277
5.
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Hum Mutat
; 41(7): 1329-1338, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333439
6.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
7.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740731
8.
[Fourteenth Jesús Culebras Lecture. Ketogenic diet, a half-discovered treatment]. / Decimocuarta Lección Jesús Culebras. Dieta cetogénica, un tratamiento a medio descubrir.
Nutr Hosp
; 41(2): 477-488, 2024 Apr 26.
Artigo
em Espanhol
| MEDLINE | ID: mdl-38450481
9.
Ketogenic dietary therapies for epilepsy: Experience in 160 patients over 18 years.
An Pediatr (Engl Ed)
; 96(6): 511-522, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35650008
10.
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
J Pediatr Endocrinol Metab
; 35(10): 1223-1231, 2022 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112821
11.
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
J Clin Med
; 11(10)2022 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35629059
12.
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.
Nutrients
; 14(13)2022 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35807935
13.
[Controlling carbohydrate content in antiepileptic medications for children on a ketogenic diet]. / Control de carbohidratos en los medicamentos antiepilépticos para niños con dieta cetogénica.
Nutr Hosp
; 39(4): 760-777, 2022 Aug 25.
Artigo
em Espanhol
| MEDLINE | ID: mdl-35546471
14.
Psychological and social impact on parents of children with feeding difficulties.
An Pediatr (Engl Ed)
; 97(5): 317-325, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36202741
15.
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
JIMD Rep
; 63(2): 146-161, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35281663
16.
Vitamin C and folate status in hereditary fructose intolerance.
Eur J Clin Nutr
; 76(12): 1733-1739, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35854131
17.
Cross-cultural adaptation to Spanish and content validity of three nutritional risk scales.
An Pediatr (Engl Ed)
; 97(1): 12-21, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35729061
18.
Feeling of burden, psychological distress, and anxiety among primary caregivers of children with home enteral nutrition.
J Pediatr Psychol
; 36(2): 188-95, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20719753
19.
Efficacy and safety of ketogenic dietary theraphies in infancy. A single-center experience in 42 infants less than two years of age.
Seizure
; 92: 106-111, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34500220
20.
[Ketogenic dietary therapies for epilepsy: Experience in 160 patients over 18 years]. / Terapias dietéticas cetogénicas en epilepsia: experiencia en 160 pacientes durante 18 años.
An Pediatr (Engl Ed)
; 2021 Jun 14.
Artigo
em Espanhol
| MEDLINE | ID: mdl-34140236