Irene Chang, MD

Title(s)Associate Professor, Pediatrics
SchoolSchool of Medicine
ORCID ORCID Icon0000-0002-5842-5912 Additional info
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Childs Nerv Syst. 2025 Apr 29; 41(1):172. Boop S, Nistal D, Barrios-Anderson A, Cherny WB, Chang IJ, Shelkowitz E, Kho T, Goldstein HE, Hauptman J. PMID: 40295329; PMCID: PMC12037640.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases. Am J Med Genet C Semin Med Genet. 2025 Jan 31; e32132. Borges B, Canepa E, Chang IJ, Herzeg A, Lianoglou B, Kishnani PS, Harmatz P, MacKenzie TC, Cohen JL. PMID: 39891377.
      View in: PubMed   Mentions:    Fields:    
    3. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Mol Genet Metab. 2024 Aug; 142(4):108509. Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. PMID: 38959600; PMCID: PMC11299528.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    4. 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk. Genet Med Open. 2024; 2. Zalusky MP, Gustafson JA, Bohaczuk SC, Mallory B, Reed P, Wenger T, Beckman E, Chang IJ, Paschal CR, Buchan JG, Lockwood CM, Puia-Dumitrescu M, Garalde DR, Guillory J, Markham AJ, Bamshad MJ, Eichler EE, Stergachis AB, Miller DE. PMID: 39421454; PMCID: PMC11484281.
      View in: PubMed   Mentions: 7  
    5. Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation. J Inherit Metab Dis. 2023 03; 46(2):326-334. Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD. PMID: 36719165; PMCID: PMC10023375.
      View in: PubMed   Mentions: 1     Fields:    
    6. Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant. J Mov Disord. 2022 09; 15(3):281-283. Olson V, Chang IJ, Merritt JL, Mingbunjerdsuk D. PMID: 35614015; PMCID: PMC9536905.
      View in: PubMed   Mentions:
    7. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol. 2021 10 01; 78(10):1236-1248. Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ, FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALS, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E. PMID: 34459874; PMCID: PMC8406220.
      View in: PubMed   Mentions: 40     Fields:    
    8. The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses. JIMD Rep. 2021 Jul; 60(1):67-74. Guenzel AJ, Hall PL, Scott AI, Lam C, Chang IJ, Thies J, Ferreira CR, Pichurin P, Laxen W, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Matern D, Tortorelli S. PMID: 34258142; PMCID: PMC8260482.
      View in: PubMed   Mentions: 5  
    9. Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders. JPEN J Parenter Enteral Nutr. 2021 02; 45(2):230-238. Norris MK, Scott AI, Sullivan S, Chang IJ, Lam C, Sun A, Hahn S, Thies JM, Gunnarson M, McKean KN, Merritt JL. PMID: 33085788.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    10. Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. Am J Med Genet A. 2021 01; 185(1):213-218. Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D, Gavrilov DK, Tortorelli S, Matern D, Rinaldo P, Bennett JT, Thies JM, Chang IJ, Beck AE, Raymond K, Allenspach EJ, Lam C. PMID: 33044030; PMCID: PMC8098812.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    11. Pharmacokinetics of oral l-serine supplementation in a single patient. Mol Genet Metab Rep. 2020 Sep; 24:100607. Miller DE, Ferreira CR, Scott AI, Chang IJ. PMID: 32489882; PMCID: PMC7256326.
      View in: PubMed   Mentions: 4  
    12. The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis. Mol Genet Genomic Med. 2020 04; 8(4):e1172. Poskanzer SA, Thies J, Collins CJ, Myers CT, Dayuha R, Duong P, Yi F, Chang IJ, Ochs HD, Torgerson TR, Hahn SH. PMID: 32067425; PMCID: PMC7196455.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    13. Influence of enteral feeding and anemia on tissue oxygen extraction after red blood cell transfusion in preterm infants. Transfusion. 2020 03; 60(3):466-472. Goldstein GP, Rao A, Ling AY, Ding VY, Chang IJ, Chock VY. PMID: 31984520.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    14. Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia. Am J Hum Genet. 2019 05 02; 104(5):936-947. Oosterhof N, Chang IJ, Karimiani EG, Kuil LE, Jensen DM, Daza R, Young E, Astle L, van der Linde HC, Shivaram GM, Demmers J, Latimer CS, Keene CD, Loter E, Maroofian R, van Ham TJ, Hevner RF, Bennett JT. PMID: 30982608; PMCID: PMC6506793.
      View in: PubMed   Mentions: 96     Fields:    Translation:HumansAnimalsCells
    15. Factor VIII and vWF deficiency in STT3A-CDG. J Inherit Metab Dis. 2019 03; 42(2):325-332. Chang IJ, Byers HM, Ng BG, Merritt JL, Gilmore R, Shrimal S, Wei W, Zhang Y, Blair AB, Freeze HH, Zhang B, Lam C. PMID: 30701557; PMCID: PMC6658093.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    16. Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots. Front Immunol. 2018; 9:2756. Collins CJ, Chang IJ, Jung S, Dayuha R, Whiteaker JR, Segundo GRS, Torgerson TR, Ochs HD, Paulovich AG, Hahn SH. PMID: 30564228; PMCID: PMC6288356.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansPHPublic Health
    17. Congenital disorders of glycosylation. Ann Transl Med. 2018 Dec; 6(24):477. Chang IJ, He M, Lam CT. PMID: 30740408; PMCID: PMC6331365.
      View in: PubMed   Mentions: 104  
    18. Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants. Am J Med Genet A. 2018 07; 176(7):1675-1679. Chang IJ, Sun A, Bouchard ML, Kamps SE, Hale S, Done S, Goldberg MJ, Glass IA. PMID: 30160829; PMCID: PMC6121735.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    19. COQ2 nephropathy: a treatable cause of nephrotic syndrome in children. Pediatr Nephrol. 2018 07; 33(7):1257-1261. Starr MC, Chang IJ, Finn LS, Sun A, Larson AA, Goebel J, Hanevold C, Thies J, Van Hove JLK, Hingorani SR, Lam C. PMID: 29637272; PMCID: PMC5990461.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    20. Novel pregnancy-triggered episodes of CAPOS syndrome. Am J Med Genet A. 2018 01; 176(1):235-240. Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA. PMID: 29090527; PMCID: PMC5726903.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    21. The genetics of Wilson disease. Handb Clin Neurol. 2017; 142:19-34. Chang IJ, Hahn SH. PMID: 28433102; PMCID: PMC5648646.
      View in: PubMed   Mentions: 57     Fields:    Translation:Humans
    22. Distribution of cervical intraepithelial neoplasia on the cervix in Chinese women: pooled analysis of 19 population based screening studies. BMC Cancer. 2015 Jun 27; 15:485. Zhao YQ, Chang IJ, Zhao FH, Hu SY, Smith JS, Zhang X, Li SM, Bai P, Zhang WH, Qiao YL. PMID: 26122004; PMCID: PMC4485364.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    23. Multivitamin and mineral supplementation is associated with the reduction of fracture risk and hospitalization rate in Chinese adult males: a randomized controlled study. J Bone Miner Metab. 2015 May; 33(3):294-302. Wang SM, Yin LY, Zhang Y, Fan JH, Chang IJ, Dawsey SM, Taylor PR, Abnet CC, Qiao YL. PMID: 24849736; PMCID: PMC5878018.
      View in: PubMed   Mentions: 2     Fields:    
    24. The natural history of cervical cancer in chinese women: results from an 11-year follow-up study in china using a multistate model. Cancer Epidemiol Biomarkers Prev. 2014 Jul; 23(7):1298-305. Zhang SK, Kang LN, Chang IJ, Zhao FH, Hu SY, Chen W, Shi JF, Zhang X, Pan QJ, Li SM, Qiao YL. PMID: 24789847.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    25. Comparison of HPV genotypes and viral load between different sites of genital tract: the significance for cervical cancer screening. Cancer Epidemiol. 2014 Apr; 38(2):168-73. Zhang SK, Ci PW, Velicer C, Kang LN, Liu B, Cui JF, Chen F, Zhang X, Chang IJ, Roberts CC, Smith JS, Chen W, Qiao YL. PMID: 24522235.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCellsPHPublic Health
    26. Effect of an educational intervention on HPV knowledge and vaccine attitudes among urban employed women and female undergraduate students in China: a cross-sectional study. BMC Public Health. 2013 Oct 02; 13:916. Chang IJ, Huang R, He W, Zhang SK, Wang SM, Zhao FH, Smith JS, Qiao YL. PMID: 24088392; PMCID: PMC3852612.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansCellsPHPublic HealthCTClinical Trials
    27. Regulation of synaptic transmission at the photoreceptor terminal: a novel role for the cation-chloride co-transporter NKCC1. J Physiol. 2013 Jan 01; 591(1):133-47. Shen W, Purpura LA, Li B, Nan C, Chang IJ, Ripps H. PMID: 23090945; PMCID: PMC3630777.
      View in: PubMed   Mentions: 5     Fields:    Translation:AnimalsCells
    28. Short-term neurodevelopmental outcomes in neonates with congenital heart disease: the era of newer surgical strategies. Congenit Heart Dis. 2012 Nov-Dec; 7(6):544-50. Chock VY, Chang IJ, Reddy VM. PMID: 22676547; PMCID: PMC3443535.
      View in: PubMed   Mentions: 5     Fields:    
    29. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews®. 1993. Chang IJ, Lam C, Vockley J. View Publication.
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