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	题名	作者	年代	出处	被引量
1	Reversal of respiratoryfailure in both neonatal and late onset isolated remethylation disorders显示文摘	Broomfield A Abulhoul L Pitt W	2014	JIMD Rep2014，16，：	1
2	Pregnancy during nitisinone treatment for tyrosinaemia type I: first human experience显示文摘	Vanclooster A Devlieger R Meersseman W	2012	JIMD Rep2012，5，1：	1
3	Newborn screening for lysosomal storage disorders inhungary显示文摘	WITTMANN J KARG E TURI S e t a l	2012	JIMD Rep2012，6，：	1
4	The use of elevated doses of genistein-rich soy extract in the gene expression-targeted isoflavone therapy forSanfilippo disease patients 显示文摘	Malinovt V Wegrzyn G Narajczyk M	2012	JIMD Rep2012，5，：	1
5	Neonatal cholestasis as initial manifestation of type 2 Gaucher disease:a continuum in the spectrum of early onset Gaucher disease显示文摘	Elias AF Johnson MR Boitnott JK	2012	JIMD Rep2012，5，：	1
6	Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy显示文摘	Thibert R Hyland K Chiles J	2012	JIMD Rep2012，3，：	1
7	Mutation profile of the MUT gene in Chinese methylmalonic aeiduria patients显示文摘	Liu MY Liu TT Yang YL	2012	JIMD Rep2012，6，：	1
8	Novel deletion mutation identified in a patient with late-onset combined methylmalonic academia and homocystinuria, cblC type 显示文摘	Backe PH Ytre-Arue M Rohr AK	2013	JIMD Rep2013，11，：	1
9	Cirrhosis associated with pyri- doxal 5 '-phosphate treatment of pyridoxamine 5 '-phosphate oxidase defi- ciency 显示文摘	Sudarsmmm A Singh H Wilcken B	2014	JIMD Rep2014，17，：	1
10	A Novel Exonic Splicing Mutation in the TAZ Gene in a Case with Atypical Barth Syndrome显示文摘	Fan Y Steller J Gonzalez IL	2013	JIMD Rep2013，11，：	1
11	Reversal of Respiratory Failure in Both Neonatal and Late Onset Isolated Remethylation Disorders显示文摘	Broomfield A Abulhoul L Pitt W	2014	JIMD Rep2014，6，：	1
12	Norm',d cerebrospinal fluid pyridoxal 5'-Phosphate level in a PNPO-deficient patient with neonata- lonset epileptic encephalopathy 显示文摘	Levtova A Camuzeaux S Laberge AM	2015	JIMD Rep2015，22，：	1
13	PNPO deficiency and cirrhosis: expanding the clinical phenotype? 显示文摘	Coman D Lewindon P Clayton P	2015	JIMD Rep2015，，：	1
14	Mutation profile of theMUT gene in Chinese methylmalonic aciduria patients 显示文摘	Liu MY Liu TT Yang YL	2012	JIMD Rep2012，6，：	1
15	Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood 显示文摘	Roubergue A Philibert B Gautier A	2015	JIMD Rep2015，15，：	1
16	Cerebral edema in maple syrup urine disease despite newborn screening diagnosis and early initiation of treatment显示文摘	Myers K A Reeves M Wei X C	2012	JIMD Rep2012，3，：	1
17	Immune modula- tion therapy in a CRIM-positive and IgG antibody-positive in- fant with Pompe disease treated with Alglueosidase Alfa: A Case Report 显示文摘	Markic J Polic B Kuzmanic-Samija R	2012	JIMD Rep2012，2，：	1
18	Clinical,biochemi- cal,and molecular presentation in a patient with the cbID- Homocystinuria inborn error of eobalamin metabolism 显示文摘	Atkinson C Miousse IR Watkins D	2014	JIMD Rep2014，17，：	1
19	A zinc Sulphate- Resistant acrodermatitis enteropathica patient with a nov- el mutation in SLC39A4 gene 显示文摘	Kilic M Taskesen M Coskun T	2012	JIMD Rep2012，2，1：	1
20	Thiamine- responsive and non-responsive patients with PDHC-E1 deficiency: a retrospective assessment 显示文摘	van Dongen S Brown RM Brown GK	2015	JIMD Rep2015，15，：	1

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