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1.
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
Mol Psychiatry
; 2024 Jan 11.
Article
in English
| MEDLINE | ID: mdl-38200289
2.
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
J Inherit Metab Dis
; 46(4): 554-572, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37243446
3.
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Am J Med Genet A
; 188(4): 1124-1141, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35107211
4.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34652576
5.
Severity modeling of propionic acidemia using clinical and laboratory biomarkers.
Genet Med
; 23(8): 1534-1542, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34007002
6.
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(8): 1522-1533, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33820958
7.
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
Muscle Nerve
; 63(4): 516-524, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33389762
8.
Chronic kidney disease in propionic acidemia.
Genet Med
; 21(12): 2830-2835, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31249402
9.
The Key to Adrenal Insufficiency Education: Repetition, Repetition, Repetition.
Pediatr Endocrinol Rev
; 14(Suppl 2): 448-453, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28647949
10.
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(11): 2233, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-33972722
11.
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.
Int J Environ Res Public Health
; 21(5)2024 May 13.
Article
in English
| MEDLINE | ID: mdl-38791829
12.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Nat Genet
; 55(7): 1149-1163, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37386251
13.
Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Hum Genet
; 131(12): 1889-94, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-22886582
14.
Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
Clin Chem
; 58(2): 421-30, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22156666
15.
McCune-Albright Syndrome: An Overview of Clinical Features.
J Pediatr Nurs
; 30(5): 815-7, 2015.
Article
in English
| MEDLINE | ID: mdl-26209174
16.
Hypoglycemia during acute illness in children with classic congenital adrenal hyperplasia.
J Pediatr Nurs
; 25(1): 18-24, 2010 Feb.
Article
in English
| MEDLINE | ID: mdl-20117671
17.
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.
Brain Commun
; 2(1): fcaa014, 2020.
Article
in English
| MEDLINE | ID: mdl-32328577
18.
Adrenal insufficiency: causes and prevention of adrenal crisis.
J Pediatr Nurs
; 28(6): 620-1, 2013.
Article
in English
| MEDLINE | ID: mdl-23994548
19.
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Nat Commun
; 8: 16077, 2017 07 06.
Article
in English
| MEDLINE | ID: mdl-28681861
20.
A phase 2 study of Chronocort, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia.
J Clin Endocrinol Metab
; 100(3): 1137-45, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25494662