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1.
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.
Genet Med
; 26(4): 101069, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38205742
2.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38216926
3.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet
; 105(3): 631-639, 2019 09 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31353024
4.
Determining ideal balance among branched-chain amino acids in medical formula for Propionic Acidemia: A proof of concept study in healthy children.
Mol Genet Metab
; 135(1): 56-62, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34969640
5.
Developments in evidence creation for treatments of inborn errors of metabolism.
J Inherit Metab Dis
; 44(1): 88-98, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32944978
6.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33200442
7.
Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.
BMC Pediatr
; 21(1): 45, 2021 01 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-33472608
8.
Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability.
Paediatr Child Health
; 26(6): 344-348, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34676012
9.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29220674
10.
Impact of enteral arginine supplementation on lysine metabolism in humans: A proof-of-concept for lysine-related inborn errors of metabolism.
J Inherit Metab Dis
; 43(5): 952-959, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32187681
11.
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.
Int J Mol Sci
; 21(23)2020 Nov 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-33266180
12.
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
Hum Mutat
; 39(7): 1014-1023, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29688601
13.
Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.
Neuropediatrics
; 49(6): 369-372, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30045381
14.
Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre.
Can J Neurol Sci
; 45(2): 206-213, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29506600
15.
Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length.
Pediatr Hematol Oncol
; 35(1): 45-51, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29652549
16.
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
Am J Hum Genet
; 94(3): 453-61, 2014 Mar 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-24530203
17.
The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria.
J Nutr
; 147(2): 211-217, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28053173
18.
Carnitine deficiency, hearing loss and hydrochlorothiazide-induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in HNF4A.
Am J Med Genet A
; 188(10): 3139-3141, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35909316
19.
A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
Mol Genet Metab
; 118(3): 173-177, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27233226
20.
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
Mol Genet Metab
; 117(1): 42-8, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26647175