Search details
1.
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Hum Mol Genet
; 31(24): 4121-4130, 2022 12 16.
Article
in English
| MEDLINE | ID: mdl-35913762
2.
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Mol Genet Metab
; 142(2): 108486, 2024 Apr 27.
Article
in English
| MEDLINE | ID: mdl-38733639
3.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
J Inherit Metab Dis
; 46(2): 232-242, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36515074
4.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
J Inherit Metab Dis
; 44(3): 606-617, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33190319
5.
Acute Normoglycemic Ketoacidosis.
Clin Chem
; 65(12): 1610-1612, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31776163
6.
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
J Med Genet
; 50(4): 240-5, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23393310
7.
Case 2: A 2-month-old Girl with Liver Failure and a Brother with Tyrosinemia Type I.
Pediatr Rev
; 40(12): 639-642, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-31792048
8.
Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria.
Clin Chem
; 64(6): 978-980, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29844061
9.
Hereditary orotic aciduria identified by newborn screening.
Front Genet
; 14: 1135267, 2023.
Article
in English
| MEDLINE | ID: mdl-36999056
10.
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
J Med Genet
; 48(3): 177-82, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21147908
11.
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.
Am J Hum Genet
; 83(5): 643-8, 2008 Nov.
Article
in English
| MEDLINE | ID: mdl-19068277
12.
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Hum Mutat
; 31(3): 279-83, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20020533
13.
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Hum Mutat
; 31(4): 380-90, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20052767
14.
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.
Mol Genet Metab
; 101(2-3): 228-32, 2010.
Article
in English
| MEDLINE | ID: mdl-20682460
15.
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Mol Genet Metab
; 101(2-3): 172-7, 2010.
Article
in English
| MEDLINE | ID: mdl-20675163
16.
Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Eur J Med Genet
; 63(6): 103901, 2020 Jun.
Article
in English
| MEDLINE | ID: mdl-32151765
17.
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Hum Mutat
; 30(3): E520-9, 2009 Mar.
Article
in English
| MEDLINE | ID: mdl-19177531
18.
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
Mol Genet Metab
; 94(4): 431-434, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-18485777
19.
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
Mol Genet Metab
; 93(2): 179-89, 2008 Feb.
Article
in English
| MEDLINE | ID: mdl-18054510
20.
REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.
Mol Genet Metab
; 2007 Jan 17.
Article
in English
| MEDLINE | ID: mdl-17234443