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Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
被引:4
|作者:
Sen, Kuntal
[1
]
Burrage, Lindsay C.
[2
,3
]
Chapman, Kimberly A.
[4
,5
]
Ginevic, Ilona
[6
]
Mazariegos, George V.
[7
,8
]
Graham, Brett H.
[9
]
机构:
[1] Childrens Natl Hosp, Ctr Neurosci & Behav Med, Div Neurogenet & Neurodev Pediat, Washington, DC 20010 USA
[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA
[3] Texas Childrens Hosp, Houston, TX USA
[4] Childrens Natl Hosp, Rare Dis Inst, Washington, DC USA
[5] George Washington Univ, Dept Pediat, Sch Med & Hlth Sci, Washington, DC USA
[6] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA
[7] UPMC Childrens Hosp Pittsburgh, Hillman Ctr Pediat Transplantat, Pittsburgh, PA USA
[8] Univ Pittsburgh, Dept Surg, Pittsburgh, PA USA
[9] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN USA
[10] Amer Coll Med Genet & Genom, Bethesda, MD USA
关键词:
Kidney transplant;
Liver transplant;
Metabolic decompensation;
Methylmalonic acidemia;
Propionic acidemia;
PEDIATRIC LIVER-TRANSPLANTATION;
RENAL-TRANSPLANTATION;
KIDNEY-TRANSPLANTATION;
LATE COMPLICATIONS;
PATIENT;
MANAGEMENT;
CHILDREN;
ONSET;
CARDIOMYOPATHY;
PROGNOSIS;
D O I:
10.1016/j.gim.2022.11.005
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
This statement is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinicians should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted, and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures. Where individual authors are listed, the views expressed may not reflect those of authors' employers or affiliated institutions. Requests for permissions must be directed to the American College of Medical Genetics and Genomics, as rights holder.
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页数:10
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