Results 121 to 130 of about 1,894 (150)

Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category. [PDF]

Int J Neonatal Screen
Matsumoto Y, Kushihashi Y, Suwa A, Tajima G.   +3 more
europepmc   +1 more source

The Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand. [PDF]

Int J Neonatal Screen
Wichajarn K, Sawatjui N, Prasongdee P, Panklin A, Sornkayasit K, Chungkanchana N, Tessiri S, Wintachai P, Dechyotin S, Pasomboon C, Ratanapontee J, Thanakitsuwan S, Rattanathongkom A.   +12 more
europepmc   +1 more source

Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic <i>SLC25A13</i> Variants. [PDF]

Ann Lab Med
Jang MA, Heo WY, Lee JK, Kim JW, Kim SM, Jang JH, Park HD.   +6 more
europepmc   +1 more source

Infantile cholestasis caused by pituitary stalk interruption syndrome: a case report and review of the literature. [PDF]

Transl Pediatr
Liao X, Liu S, Zou B, Shu S, Dong C.
europepmc   +1 more source

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024. [PDF]

Front Pediatr
Ou MM, Sun CT, Zhang L, Kong LL, Zhang LX, Zheng J, Zhang PY, Wang YM, Lin XF, Yang X.   +9 more
europepmc   +1 more source

Primary sclerosing cholangitis complicated with ulcerative colitis and double gene mutations of UGT1A1 and SLC25A13: a case report. [PDF]

Front Med (Lausanne)
Shi Y, Chen K, Ye J, Yang M.
europepmc   +1 more source

Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review. [PDF]

Hum Mutat
Kido J, Sugawara K, Tavoulari S, Makris G, Rüfenacht V, Nakamura K, Kunji ERS, Häberle J.   +7 more
europepmc   +1 more source

Rare cause of recurrent acute pancreatitis in teenage man. [PDF]

eGastroenterology
Lai Y, Pan J, Peng K, Wu D, Wen L.
europepmc   +1 more source

Hyperammonemic encephalopathy after 5-fluorouracil chemotherapy. [PDF]

CMAJ
Salimi P, Soriano A, Crocker E, Goldenberg B.   +3 more
europepmc   +1 more source