PubRank

G F Hoffmann

Author PubWeight™ 138.64‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Leukotrienes in the pathophysiology of kwashiorkor. Lancet 1993 3.14
2 White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms. Neuropediatrics 2002 2.10
3 Mild trimethylaminuria caused by common variants in FMO3 gene. Lancet 1999 2.07
4 Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology 2010 1.88
5 A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 1998 1.78
6 Screening for defects of branched-chain amino acid metabolism. Eur J Pediatr 1994 1.67
7 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet 2000 1.61
8 Tetrahydrobiopterin deficiency in human rabies. J Inherit Metab Dis 2008 1.56
9 Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. J Pediatr 2000 1.45
10 Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. Neuropediatrics 2000 1.44
11 Abuse or metabolic disorder? Arch Dis Child 1998 1.42
12 D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol 1999 1.41
13 Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004 1.41
14 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics 1998 1.37
15 Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 2007 1.31
16 Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. Neurology 2005 1.26
17 Mutation analysis in glutaric aciduria type I. J Med Genet 2000 1.23
18 Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach. J Inherit Metab Dis 2007 1.22
19 Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). J Inherit Metab Dis 2007 1.20
20 High prevalence of vitamin D deficiency in young children in a highly sunny humid country: a global health problem. Minerva Pediatr 2009 1.19
21 L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 1992 1.16
22 Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis 1998 1.15
23 Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I. Eur J Dermatol 2001 1.14
24 Pyridoxal phosphate-dependent neonatal epileptic encephalopathy. Arch Dis Child Fetal Neonatal Ed 2008 1.12
25 Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr Res 2000 1.10
26 Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Eur J Hum Genet 2001 1.09
27 Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem 1998 1.09
28 Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. Eur J Pediatr 1997 1.08
29 Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). Neurochem Int 2007 1.08
30 Leukotrienes: biosynthesis, metabolism, and pathophysiologic significance. Pediatr Res 1995 1.08
31 Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 1999 1.08
32 Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis 2009 1.08
33 Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg. J Inherit Metab Dis 2007 1.03
34 Phenylketonuria mutations in Germany. Hum Genet 1999 1.01
35 Erythropoietic and hepatic porphyrias. J Inherit Metab Dis 2000 1.00
36 Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inherit Metab Dis 1997 0.99
37 Molecular and functional characterisation of mild MCAD deficiency. Hum Genet 2001 0.99
38 Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res 1993 0.99
39 Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence. J Biol Chem 1996 0.98
40 Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. J Inherit Metab Dis 2007 0.98
41 Neonatal screening for glutaric aciduria type I: strategies to proceed. J Inherit Metab Dis 2006 0.97
42 A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. Ann Hum Genet 2000 0.97
43 Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am J Hum Genet 1999 0.96
44 A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. J Inherit Metab Dis 2002 0.96
45 Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry. J Inherit Metab Dis 2005 0.96
46 Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis. J Inherit Metab Dis 1999 0.95
47 Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. Neuropediatrics 2002 0.95
48 Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome. J Neurol Sci 2001 0.95
49 Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. Clin Chem 2001 0.95
50 Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF. Neurology 2004 0.94
51 Inborn errors of metabolism and motor disturbances in children. J Inherit Metab Dis 2009 0.94
52 Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome. J Inherit Metab Dis 2008 0.94
53 Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004 0.93
54 Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism. J Inherit Metab Dis 2008 0.92
55 Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004 0.92
56 A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations. Neuropediatrics 2001 0.92
57 Expanded newborn screening in Europe 2007. J Inherit Metab Dis 2007 0.92
58 Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination. J Inherit Metab Dis 2008 0.92
59 L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 1993 0.91
60 Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? J Inherit Metab Dis 1997 0.91
61 Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. Neuropediatrics 2006 0.91
62 Glutaric aciduria and suspected child abuse. Arch Dis Child 1999 0.91
63 Qualitative urinary organic acid analysis: methodological approaches and performance. J Inherit Metab Dis 2008 0.90
64 Inherited disorders of cholesterol biosynthesis. Neuropediatrics 2001 0.90
65 Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts. J Med Genet 2007 0.90
66 Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. Am J Med Genet 1998 0.90
67 Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. Neuropediatrics 2002 0.90
68 Emergency treatment in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004 0.90
69 Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency. J Biol Chem 1997 0.90
70 Emergency management of inherited metabolic diseases. J Inherit Metab Dis 2002 0.89
71 Early onset epilepsy and inherited metabolic disorders: diagnosis and management. Can J Neurol Sci 2010 0.89
72 Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics 2000 0.89
73 Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection. Pediatr Res 1992 0.89
74 Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Neurology 2006 0.87
75 Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency. J Pediatr 1993 0.87
76 Mental retardation and inborn errors of metabolism. J Inherit Metab Dis 2009 0.87
77 3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis. J Neurosci Res 2001 0.86
78 A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). J Inherit Metab Dis 1999 0.86
79 Neurotransmitter metabolites in CSF: an external quality control scheme. J Inherit Metab Dis 2002 0.86
80 Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase. J Inherit Metab Dis 1999 0.86
81 Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Neuropediatrics 2003 0.85
82 Glutaric aciduria type III: a distinctive non-disease? J Inherit Metab Dis 2002 0.85
83 Increased urinary excretion of dicarboxylic acids and 4-hydroxyphenyllactic acid in patients with Zellweger syndrome. Eur J Pediatr 1995 0.85
84 Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency. Pediatr Res 1994 0.85
85 beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine. Magn Reson Med 2001 0.85
86 Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading. J Inherit Metab Dis 1999 0.85
87 Glutaric aciduria type I: ultrasonographic demonstration of early signs. Pediatr Radiol 1999 0.85
88 5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia. J Inherit Metab Dis 1995 0.84
89 Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. J Inherit Metab Dis 2009 0.84
90 Does prolonged breastfeeding reduce the risk for childhood leukemia and lymphomas? Minerva Pediatr 2008 0.84
91 Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency. Adv Exp Med Biol 2000 0.84
92 Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. Clin Chem 1999 0.84
93 Inborn errors of metabolism at the turn of the millennium. Croat Med J 2001 0.84
94 Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology 2005 0.84
95 Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency. J Inherit Metab Dis 2004 0.84
96 Methylmalonic acid induces excitotoxic neuronal damage in vitro. J Inherit Metab Dis 2000 0.83
97 Mutation analysis in glycogen storage disease type 1 non-a. Hum Genet 2000 0.83
98 Use of the middle colic vein for liver cell transplantation in infants and small children. Transplant Proc 2008 0.83
99 [Kawasaki syndrome. Association with exposure to carpet shampoo and successful therapy with immunoglobulins in the second week of the illness]. Monatsschr Kinderheilkd 1992 0.83
100 D-2-hydroxyglutaric aciduria: further clinical delineation. J Inherit Metab Dis 1999 0.83
101 A severely affected infant with absence of cysteinyl leukotrienes in cerebrospinal fluid: further evidence that leukotriene C4-synthesis deficiency is a new neurometabolic disorder. Neuropediatrics 1999 0.82
102 Subdural haematoma in a child with glutaric aciduria type I. Pediatr Radiol 1998 0.82
103 L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients. J Inherit Metab Dis 1997 0.82
104 Nature and nurture in vitamin B12 deficiency. Arch Dis Child 2002 0.82
105 Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS). J Mass Spectrom 2005 0.82
106 Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features. Eur J Paediatr Neurol 1999 0.82
107 Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and striatal lesions in rats. Brain Res 2001 0.82
108 3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro. J Inherit Metab Dis 1999 0.81
109 Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency. Neuropediatrics 2002 0.80
110 Genetic basis of mitochondrial HMG-CoA synthase deficiency. Hum Genet 2001 0.80
111 Towards quality assurance in the determination of lysosomal enzymes: a two-centre study. J Inherit Metab Dis 2003 0.80
112 Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency. Pediatr Res 1993 0.80
113 Assessment of energy expenditure in metabolic disorders. Eur J Pediatr 1997 0.80
114 Health-related quality of life in adolescents with inflammatory bowel disease depends on disease activity and psychiatric comorbidity. Child Psychiatry Hum Dev 2015 0.80
115 Use of a thick-film capillary column for the analysis of organic acids in body fluids. J Chromatogr 1993 0.80
116 Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency. Pediatr Res 2000 0.80
117 Mevalonate kinase map position 12q24. Chromosome Res 1997 0.80
118 Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene. J Pediatr 2001 0.80
119 Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria. J Inherit Metab Dis 1995 0.80
120 Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2. Am J Med Genet 1999 0.79
121 Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency. J Inherit Metab Dis 2000 0.79
122 Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes. J Inherit Metab Dis 1997 0.79
123 Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004 0.79
124 Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency. J Inherit Metab Dis 1995 0.79
125 Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons. Pediatr Res 2001 0.78
126 Atypical and variable clinical presentation of glutaric aciduria type I. Neuropediatrics 2000 0.78
127 Epilepsy and inborn errors of metabolism in children. J Inherit Metab Dis 2009 0.78
128 Liver cell transplantation for the treatment of inborn errors of metabolism. J Inherit Metab Dis 2008 0.78
129 Impaired deformability of erythrocytes and neutrophils in children with newly diagnosed insulin-dependent diabetes mellitus. Diabetologia 1999 0.78
130 Vitamin D and dexamethasone inversely regulate parathyroid hormone-induced regulator of G protein signaling-2 expression in osteoblast-like cells. Endocrinology 2003 0.78
131 Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning. Bone Marrow Transplant 2001 0.78
132 Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia. Clin Chem 2000 0.78
133 Diagnosis of molybdenum cofactor deficiency. Lancet 1999 0.78
134 Cerebral organic acid disorders induce neuronal damage via excitotoxic organic acids in vitro. Amino Acids 2000 0.77
135 Recurrent brain edema in ornithine-transcarbamylase deficiency. J Neurol 1999 0.77
136 Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. J Inherit Metab Dis 2001 0.77
137 Phenylalanine can be detected in brain tissue of healthy subjects by 1H magnetic resonance spectroscopy. J Inherit Metab Dis 2003 0.77
138 Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria. J Inherit Metab Dis 1997 0.77
139 Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options. J Inherit Metab Dis 2004 0.77
140 [Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)]. Monatsschr Kinderheilkd 1991 0.77
141 Indications for pediatric liver transplantation. Data from the Heidelberg pediatric liver transplantation program. Nephrol Dial Transplant 2007 0.76
142 Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004 0.76
143 Abnormal prenatal ultrasound findings in mevalonic aciduria. Prenat Diagn 2008 0.76
144 Protein turnover in critically ill children. Eur J Pediatr 1997 0.76
145 The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. Neuropediatrics 2006 0.76
146 Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants. Early Hum Dev 1999 0.76
147 Evaluation of trigger factors of acute encephalopathy in glutaric aciduria type I: fever and tumour necrosis factor-alpha. J Inherit Metab Dis 2000 0.76
148 D-2-hydroxyglutaric aciduria: evidence of clinical and biochemical heterogeneity. J Inherit Metab Dis 1998 0.76
149 Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis? Neurology 2006 0.76
150 Disorders of intermediary metabolism: toxic leukoencephalopathies. J Inherit Metab Dis 2005 0.76
151 A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease. J Neurol Neurosurg Psychiatry 2008 0.76
152 [Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)]. Klin Padiatr 1993 0.76
153 Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures. Eur J Neurosci 2001 0.75
154 [CDG (congenital disorders of glycosylation). Differential hereditary ataxia in adulthood diagnosis]. Nervenarzt 2002 0.75
155 Moderate weight reduction in an outpatient obesity intervention program significantly reduces insulin resistance and risk factors for cardiovascular disease in severely obese adolescents. Int J Endocrinol 2011 0.75
156 Giving them a good start: informatics support of newborn screening and clinical care. AMIA Annu Symp Proc 2005 0.75
157 L-dopa and selegiline for tyrosine hydroxylase deficiency. J Pediatr 2001 0.75
158 Pyridoxal phosphate-dependent neonatal epileptic encephalopathy. BMJ Case Rep 2009 0.75
159 MRI in Smith-Lemli-Opitz syndrome type 1. Childs Nerv Syst 1997 0.75
160 Adult onset glutaric aciduria type I presenting with a leukoencephalopathy. Neurology 2003 0.75
161 Differential diagnosis of disorders of biogenic amines metabolism. Eur J Paediatr Neurol 1998 0.75
162 [Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis]. Klin Padiatr 1993 0.75
163 [Phenylketonuria and hyperphenylalaninemia]. Dtsch Krankenpflegez 1993 0.75
164 Myotonic dystrophy associated with VACTERL? A case report. Neuropediatrics 2001 0.75
165 In Memoriam. Univ.-Prof. Dr. Med. Dr. H. C. Horst Bickel, PhD, FRCP. 28 June 1918--1 December 2000. J Inherit Metab Dis 2001 0.75
166 PAH gene mutation analysis in clinical practice--comments on mutation analysis anticipates dietary requirements in phenylketonuria. Eur J Pediatr 2000 0.75
167 Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1997 0.75
168 Analysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiency. Clin Chim Acta 2000 0.75
169 Improvement of CDG diagnosis by combined examination of several glycoproteins. J Inherit Metab Dis 2004 0.75
170 [Erich von Baeyer: the turbulent life of an outstanding German-American radiologist]. Radiologe 2012 0.75
171 Urinary excretion of Krebs cycle metabolites in a 13-year-old girl. J Inherit Metab Dis 1999 0.75
172 SSIEM Award. Impaired metabolism of leukotrienes in inherited metabolic disorders. J Inherit Metab Dis 1994 0.75
173 Cycle sequencing of polymerase chain reaction-amplified genomic DNA with dye-labeled universal primers. Methods Mol Biol 2001 0.75
174 How much chicken is food? Questioning the definition of food by analyzing amino acid composition of modern convenience products. Anthropol Anz 2012 0.75
175 Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease? Eur J Pediatr 1996 0.75
176 [Hyperthyroidism in early childhood and a very rare variant of glutaric aciduria: coincidence or causal relation?]. Klin Padiatr 2001 0.75
177 Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism. J Inherit Metab Dis 2000 0.75
178 Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency. Clin Chim Acta 1993 0.75
179 LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene. J Inherit Metab Dis 2007 0.75
180 [Application of indirect calorimetry in monitoring feeding of low birth-weight preterm infants]. Klin Padiatr 1999 0.75
181 Severe hyperchloriduria-hyperkaliuria: a new congenital renal tubular abnormality? J Pediatr 1996 0.75
182 [Infant vomiting--differential diagnosis and management]. MMW Fortschr Med 2004 0.75
183 [Value of the new anticonvulsants in pediatrics]. Klin Padiatr 1998 0.75
184 Deficient synthesis of cysteinyl leukotrienes in glutathione synthetase deficiency. Int J Tissue React 1993 0.75
185 Characterization of the mevalonate kinase 5'-untranslated region provides evidence for coordinate regulation of cholesterol biosynthesis. Biochem Biophys Res Commun 1998 0.75
186 Plasma concentrations of phenyllactic acid in phenylketonuria. J Inherit Metab Dis 1990 0.75
187 [Enzyme defects of the urea cycle in differential acute encephalopathy diagnosis in adulthood. Diagnosis and current therapy concepts]. Nervenarzt 1999 0.75
188 Challenges for basic research in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004 0.75