| 1 |
High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland. ( 29095929
)
|
Nedoszytko B....Kalinowski L.
|
2017 |
| 2 |
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. ( 27078015
)
|
Yonekawa Y....Capone A.
|
2016 |
| 3 |
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. ( 27639177
)
|
KivelAo T.T.
|
2016 |
| 4 |
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 26676313
)
|
Immonen T....Lapatto R.
|
2016 |
| 5 |
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. ( 26653362
)
|
Tuuli I....Leena L.
|
2016 |
| 6 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. ( 26896063
)
|
Llorca-CardeA+osa A....CastejA^n-Ponce E.
|
2016 |
| 7 |
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. ( 27461099
)
|
Fahnehjelm K.T....NordenstrAPm A.
|
2016 |
| 8 |
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 26024122
)
|
Polinati P.P....Tyni T.
|
2015 |
| 9 |
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 23430524
)
|
Haglind C.B....NordenstrAPm A.
|
2013 |
| 10 |
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. ( 23430857
)
|
Joost K....Kahre T.
|
2012 |
| 11 |
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. ( 22579592
)
|
Vilarinho L....Bennett M.J.
|
2012 |
| 12 |
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. ( 21347589
)
|
Martins E....Vilarinho L.
|
2011 |
| 13 |
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. ( 20670938
)
|
Li C....Stanley C.A.
|
2010 |
| 14 |
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. ( 20814823
)
|
Piekutowska-Abramczuk D....Pronicka E.
|
2010 |
| 15 |
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. ( 18465739
)
|
Sturm V.
|
2008 |
| 16 |
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor. ( 28221621
)
|
|
2008 |
| 17 |
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. ( 19107076
)
|
Stopek D....Pisella P.J.
|
2008 |
| 18 |
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. ( 18162058
)
|
Fahnehjelm K.T....von DAPbeln U.
|
2008 |
| 19 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. ( 17181583
)
|
Blake F....Gbara A.
|
2007 |
| 20 |
Ten year follow up of pigmentary retinopathy associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 16167072
)
|
McGimpsey S.J....Mulholland D.A.
|
2006 |
| 21 |
Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 15347768
)
|
Tyni T....KivelAo T.
|
2004 |
| 22 |
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12809642
)
|
Gillingham M.B....Harding C.O.
|
2003 |
| 23 |
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? ( 14641012
)
|
Eaton S....Hussain K.
|
2003 |
| 24 |
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12971430
)
|
Lund A.M....Morris A.A.
|
2003 |
| 25 |
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). ( 12660866
)
|
Russell-Eggitt I.M....Morris A.A.
|
2003 |
| 26 |
Analysis of isomeric long-chain hydroxy fatty acids by tandem mass spectrometry: application to the diagnosis of long-chain 3-hydroxyacyl CoA dehydrogenase deficiency. ( 12512097
)
|
Johnson D.W....Trinh M.U.
|
2003 |
| 27 |
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency? ( 12971423
)
|
Lund A.M....Morris A.A.
|
2003 |
| 28 |
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12872842
)
|
Korenke G.C....Hanefeld F.
|
2003 |
| 29 |
[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. ( 12637776
)
|
Neuman-A8aniec M....Balcerska A.
|
2002 |
| 30 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. ( 11773547
)
|
den Boer M.E....Wijburg F.A.
|
2002 |
| 31 |
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12537820
)
|
Verlinsky Y....Kuliev A.
|
2001 |
| 32 |
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11719334
)
|
Lund A.M....Leonard J.V.
|
2001 |
| 33 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings. ( 10653342
)
|
Van Maldergem L....Bachy A.
|
2000 |
| 34 |
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. ( 10682306
)
|
Shen J.J....Van Hove J.L.
|
2000 |
| 35 |
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. ( 10789927
)
|
Das A.M....Ullrich K.
|
2000 |
| 36 |
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11040918
)
|
Puri P....Chan J.
|
2000 |
| 37 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10229030
)
|
Tyni T....Pihko H.
|
1999 |
| 38 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. ( 10638050
)
|
Faulkner M.S.
|
1999 |
| 39 |
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. ( 10331463
)
|
Strauss A.W....Ibdah J.
|
1999 |
| 40 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. ( 10518285
)
|
Thiel C....Wanders R.J.
|
1999 |
| 41 |
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10384386
)
|
Harding C.O....Mills M.D.
|
1999 |
| 42 |
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. ( 10518286
)
|
Carpenter K.H....Wilcken B.
|
1999 |
| 43 |
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. ( 10234607
)
|
Gillingham M....Harding C.
|
1999 |
| 44 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. ( 10518281
)
|
Ibdah J.A....Strauss A.W.
|
1999 |
| 45 |
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. ( 9593380
)
|
Tyni T....Pihko H.
|
1998 |
| 46 |
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. ( 9663844
)
|
Tyni T....KivelAo T.
|
1998 |
| 47 |
Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. ( 9185222
)
|
Tyni T....Pihko H.
|
1997 |
| 48 |
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. ( 9266371
)
|
Ijlst L....Wanders R.J.A.
|
1997 |
| 49 |
Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 9240910
)
|
Amirkhan R.H....Bennett M.J.
|
1997 |
| 50 |
Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 8803788
)
|
Costa C.G....Poll-The B.T.
|
1996 |
